FANCS
MCID: FNC062
MIFTS: 38

Fanconi Anemia, Complementation Group S (FANCS)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Fanconi Anemia, Complementation Group S

MalaCards integrated aliases for Fanconi Anemia, Complementation Group S:

Name: Fanconi Anemia, Complementation Group S 58 76 30 6 41
Fancs 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


Classifications:



Summaries for Fanconi Anemia, Complementation Group S

OMIM : 58 Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. (617883)

MalaCards based summary : Fanconi Anemia, Complementation Group S, also known as fancs, is related to fanconi anemia, complementation group e and fanconi anemia, complementation group a. An important gene associated with Fanconi Anemia, Complementation Group S is BRCA1 (BRCA1 DNA Repair Associated). The drugs Olaparib and Doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include breast, bone and lung, and related phenotypes are proximal placement of thumb and hypertelorism

UniProtKB/Swiss-Prot : 76 Fanconi anemia, complementation group S: A form of Fanconi anemia, a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.

Related Diseases for Fanconi Anemia, Complementation Group S

Graphical network of the top 20 diseases related to Fanconi Anemia, Complementation Group S:



Diseases related to Fanconi Anemia, Complementation Group S

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group S

Human phenotypes related to Fanconi Anemia, Complementation Group S:

33 (show all 23)
# Description HPO Frequency HPO Source Accession
1 proximal placement of thumb 33 very rare (1%) HP:0009623
2 hypertelorism 33 HP:0000316
3 clinodactyly 33 HP:0030084
4 intellectual disability 33 HP:0001249
5 failure to thrive 33 HP:0001508
6 narrow palate 33 HP:0000189
7 coarse facial features 33 HP:0000280
8 dental malocclusion 33 HP:0000689
9 global developmental delay 33 HP:0001263
10 delayed speech and language development 33 HP:0000750
11 anteverted nares 33 HP:0000463
12 epicanthus 33 HP:0000286
13 prominent nasal bridge 33 HP:0000426
14 microphthalmia 33 HP:0000568
15 upslanted palpebral fissure 33 HP:0000582
16 low anterior hairline 33 HP:0000294
17 blepharophimosis 33 HP:0000581
18 thick upper lip vermilion 33 HP:0000215
19 breast carcinoma 33 HP:0003002
20 ovarian neoplasm 33 HP:0100615
21 long eyelashes 33 HP:0000527
22 sparse hair 33 HP:0008070
23 macrodontia 33 HP:0001572

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
microphthalmia
blepharophimosis
long eyelashes
epicanthal folds
more
Neurologic Central Nervous System:
intellectual disability
developmental delay
speech delay

Head And Neck Mouth:
narrow palate
thick upper lip

Head And Neck Head:
microcephaly

Head And Neck Nose:
prominent nasal bridge
small alae nasi
anteverted nose

Head And Neck Face:
coarse facies
dysmorphic features, variable
macrognathia

Laboratory Abnormalities:
increased chromosomal breakage

Head And Neck Ears:
thick earlobes

Hematology:
anemia (when stressed, in some patients)

Skeletal Hands:
clinodactyly
proximally placed thumbs (in some patients)

Growth Other:
failure to thrive
poor overall growth

Head And Neck Teeth:
dental malocclusion
large teeth

Growth Height:
short stature

Skin Nails Hair Hair:
low anterior hairline
sparse hair

Neoplasia:
breast cancer
ovarian cancer
increased susceptibility to cancer

Skin Nails Hair Skin:
pigmentary abnormalities

Skeletal Limbs:
radial ray anomalies (in some patients)
hyperextensible knees

Clinical features from OMIM:

617883

Drugs & Therapeutics for Fanconi Anemia, Complementation Group S

Drugs for Fanconi Anemia, Complementation Group S (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 109)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Olaparib Approved Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1 763113-22-0 23725625
2
Doxorubicin Approved, Investigational Phase 2, Phase 3,Phase 3 23214-92-8 31703
3
Talazoparib Approved, Investigational Phase 3,Phase 2,Phase 1 1207456-01-6
4
Carboplatin Approved Phase 3,Phase 2,Phase 1 41575-94-4 10339178 38904 498142
5
Bevacizumab Approved, Investigational Phase 2, Phase 3 216974-75-3
6
Topotecan Approved, Investigational Phase 2, Phase 3 119413-54-6, 123948-87-8 60700
7
Paclitaxel Approved, Vet_approved Phase 2, Phase 3,Phase 3,Phase 1 33069-62-4 36314
8
Gemcitabine Approved Phase 2, Phase 3,Phase 3 95058-81-4 60750
9
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
10
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
11
mometasone furoate Approved, Investigational, Vet_approved Phase 3 83919-23-7
12
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
13
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
14
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
15
Niraparib Approved, Investigational Phase 3,Phase 1 1038915-60-4 24958200
16
Vinorelbine Approved, Investigational Phase 3,Phase 2 71486-22-1 44424639 60780
17
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
18
Doxil Approved June 1999 Phase 2, Phase 3,Phase 3 31703
19
Maleic acid Experimental, Investigational Phase 2, Phase 3,Phase 3,Phase 1 110-17-8, 110-16-7 444972
20
Cediranib Investigational Phase 2, Phase 3,Phase 3,Phase 1 288383-20-0 9933475
21
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
22 Hormone Antagonists Phase 3,Phase 1
23 Hormones Phase 3,Phase 1,Phase 2
24 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1
25 Anti-Bacterial Agents Phase 2, Phase 3,Phase 3
26 Topoisomerase Inhibitors Phase 2, Phase 3,Phase 3,Phase 1
27 Antibiotics, Antitubercular Phase 2, Phase 3,Phase 3
28 Poly(ADP-ribose) Polymerase Inhibitors Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1
29 Antiviral Agents Phase 3,Phase 2,Phase 1
30 Antimetabolites Phase 3,Phase 1,Phase 2
31 Anti-Infective Agents Phase 3,Phase 2,Phase 1
32 Antineoplastic Agents, Phytogenic Phase 2, Phase 3,Phase 3,Phase 1
33 Albumin-Bound Paclitaxel Phase 2, Phase 3,Phase 3,Phase 1
34 Protein Kinase Inhibitors Phase 2, Phase 3,Phase 3,Phase 1
35 Antimitotic Agents Phase 2, Phase 3,Phase 3,Phase 1
36 topoisomerase I inhibitors Phase 2, Phase 3,Phase 1
37 Methylprednisolone Acetate Phase 3
38 Cytochrome P-450 Enzyme Inhibitors Phase 3
39 Steroid Synthesis Inhibitors Phase 3
40 Prednisolone acetate Phase 3
41
Abiraterone acetate Phase 3 154229-18-2 57336518
42 Immunologic Factors Phase 3,Phase 2,Phase 1
43 Antimetabolites, Antineoplastic Phase 3,Phase 1,Phase 2
44 Immunosuppressive Agents Phase 3,Phase 1,Phase 2
45 Mitogens Phase 3
46
Durvalumab Approved, Investigational Phase 2,Phase 1 1428935-60-7
47
Ipilimumab Approved Phase 2 477202-00-9
48
Pembrolizumab Approved Phase 2 1374853-91-4
49
Atezolizumab Approved, Investigational Phase 2 1380723-44-3
50
Rucaparib Approved, Investigational Phase 2,Phase 1 283173-50-2 9931954

Interventional clinical trials:

(show top 50) (show all 62)
# Name Status NCT ID Phase Drugs
1 National Screening in Denmark With MR Versus Mammography and Ultrasound of Women With BRCA1 or BRCA2 Mutations Unknown status NCT00413491 Phase 4
2 Cediranib Maleate and Olaparib or Standard Chemotherapy in Treating Patients With Recurrent Platinum-Resistant or -Refractory Ovarian, Fallopian Tube, or Primary Peritoneal Cancer Recruiting NCT02502266 Phase 2, Phase 3 Cediranib Maleate;Olaparib;Paclitaxel;Pegylated Liposomal Doxorubicin Hydrochloride;Topotecan Hydrochloride
3 Study on Olaparib Plus Abiraterone as First-line Therapy in Men With Metastatic Castration-resistant Prostate Cancer Recruiting NCT03732820 Phase 3 olaparib;abiraterone acetate
4 A Phase III Trial of Niraparib Versus Physician's Choice in HER2 Negative, Germline BRCA Mutation-positive Breast Cancer Patients Active, not recruiting NCT01905592 Phase 3 niraparib;Physician's choice
5 Assessment of the Efficacy and Safety of Olaparib Monotherapy Versus Physicians Choice Chemotherapy in the Treatment of Metastatic Breast Cancer Patients With Germline BRCA1/2 Mutations. Active, not recruiting NCT02000622 Phase 3 Olaparib;Physician's choice chemotherapy
6 A Study Evaluating Talazoparib (BMN 673), a PARP Inhibitor, in Advanced and/or Metastatic Breast Cancer Patients With BRCA Mutation (EMBRACA Study) Active, not recruiting NCT01945775 Phase 3 talazoparib;Physician's-Choice
7 Olaparib or Cediranib Maleate and Olaparib Compared With Standard Platinum-Based Chemotherapy in Treating Patients With Recurrent Platinum-Sensitive Ovarian, Fallopian Tube, or Primary Peritoneal Cancer Active, not recruiting NCT02446600 Phase 3 Carboplatin;Cediranib Maleate;Gemcitabine Hydrochloride;Olaparib;Paclitaxel;Pegylated Liposomal Doxorubicin Hydrochloride
8 A Phase 2, 2-Stage, 2-Cohort Study of Talazoparib (BMN 673), in Locally Advanced and/or Metastatic Breast Cancer Patients With BRCA Mutation (ABRAZO Study) Completed NCT02034916 Phase 2 talazoparib
9 Dose-finding Study Comparing Efficacy and Safety of a PARP Inhibitor Against Doxil in BRCA+ve Advanced Ovarian Cancer Completed NCT00628251 Phase 2 AZD2281;Liposomal Doxorubicin;AZD2281
10 Study to Assess the Efficacy and Safety of a PARP Inhibitor for the Treatment of BRCA-positive Advanced Ovarian Cancer Completed NCT00494442 Phase 2 KU-0059436 (AZD2281)(PARP inhibitor);KU-0059436 (AZD2281)(PARP inhibitor)
11 Olaparib, Durvalumab, and Tremelimumab in Treating Patients With Recurrent or Refractory Ovarian, Fallopian Tube or Primary Peritoneal Cancer With BRCA1 or BRCA2 Mutation Recruiting NCT02953457 Phase 2 Olaparib
12 Pembrolizumab in Treating Participants With Metastatic, Recurrent or Locally Advanced Cancer and Genomic Instability Recruiting NCT03428802 Phase 2
13 Olaparib With or Without Atezolizumab in Treating Patients With Locally Advanced or Metastatic Non-HER2-Positive Breast Cancer Recruiting NCT02849496 Phase 2 Atezolizumab;Olaparib
14 Docetaxel, Carboplatin, and Rucaparib Camsylate in Treating Patients With Metastatic Castration Resistant Prostate Cancer With Homologous Recombination DNA Repair Deficiency Recruiting NCT03442556 Phase 2 Carboplatin;Docetaxel;Rucaparib Camsylate
15 Liposomal Irinotecan, Fluorouracil, Leucovorin Calcium, and Rucaparib in Treating Patients With Metastatic Pancreatic, Colorectal, Gastroesophageal, or Biliary Cancer Recruiting NCT03337087 Phase 1, Phase 2 Fluorouracil;Leucovorin Calcium;Liposomal Irinotecan;Rucaparib
16 Lung-MAP: Talazoparib in Treating Patients With HRRD Positive Recurrent Stage IV Squamous Cell Lung Cancer Recruiting NCT03377556 Phase 2 Talazoparib
17 Olaparib Before Surgery in Treating Participants With Localized Prostate Cancer Recruiting NCT03570476 Phase 2 Olaparib
18 Rucaparib in Treating Patients With Genomic LOH High and/or Deleterious BRCA1/2 Mutation Stage IV or Recurrent Non-small Cell Lung Cancer (A Lung-MAP Treatment Trial) Recruiting NCT03845296 Phase 2 Rucaparib
19 Olaparib in Treating Patients With Metastatic or Advanced Urothelial Cancer With DNA-Repair Defects Recruiting NCT03375307 Phase 2 Olaparib
20 Surgery in Preventing Ovarian Cancer in Patients With Genetic Mutations Recruiting NCT02760849 Phase 2
21 Cisplatin With or Without Veliparib in Treating Patients With Recurrent or Metastatic Triple-Negative and/or BRCA Mutation-Associated Breast Cancer With or Without Brain Metastases Recruiting NCT02595905 Phase 2 Cisplatin;Veliparib
22 Olaparib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Defects in DNA Damage Repair Genes (A Pediatric MATCH Treatment Trial) Recruiting NCT03233204 Phase 2 Olaparib
23 Correlate BRCA1 Protein Expression With Response to DNA Damaging Chemotherapy Active, not recruiting NCT01990352 Phase 2 Pegylated liposomal doxorubicin
24 Vinorelbine in Mesothelioma Active, not recruiting NCT02139904 Phase 2 Vinorelbine
25 ABT-888 and Temozolomide for Metastatic Breast Cancer and BRCA1/2 Breast Cancer Active, not recruiting NCT01009788 Phase 2 ABT-888;temozolomide
26 Study to Assess the Efficacy and Safety of a PARP Inhibitor for the Treatment of BRCA-positive Advanced Breast Cancer Active, not recruiting NCT00494234 Phase 2 KU-0059436 (AZD2281) (PARP inhibitor);KU-0059436 (AZD2281) (PARP inhibitor)
27 Gemcitabine Hydrochloride and Cisplatin With or Without Veliparib or Veliparib Alone in Treating Patients With Locally Advanced or Metastatic Pancreatic Cancer Active, not recruiting NCT01585805 Phase 2 Cisplatin;Gemcitabine;Gemcitabine Hydrochloride;Veliparib
28 Olaparib and Cediranib Maleate in Treating Patients With Recurrent Ovarian, Primary Peritoneal, or Fallopian Tube Cancer Active, not recruiting NCT02345265 Phase 2 Cediranib Maleate;Olaparib
29 Cediranib Maleate and Olaparib in Treating Patients With Recurrent Ovarian, Fallopian Tube, or Peritoneal Cancer or Recurrent Triple-Negative Breast Cancer Active, not recruiting NCT01116648 Phase 1, Phase 2 Cediranib Maleate;Olaparib
30 A Genetic Substudy Associated With the Avastin (Bevacizumab) Study MO19390 in Patients With Advanced or Recurrent Non-Squamous Cell Lung Cancer. Terminated NCT00642824 Phase 2 Standard chemotherapy;bevacizumab [Avastin]
31 The Potential for Oral Diindolylmethane (DIM) Supplementation to Increase the Production of the BRCA1 Protein in BRCA1 Mutation Carriers Unknown status NCT01022333 Phase 1
32 Study of Talazoparib, a PARP Inhibitor, in Patients With Advanced or Recurrent Solid Tumors Completed NCT01286987 Phase 1 Talazoparib
33 Veliparib and Carboplatin in Treating Patients With HER2-Negative Metastatic Breast Cancer Completed NCT01251874 Phase 1 Carboplatin;Veliparib
34 Study Evaluating the Antitumor Activity and Safety of Niraparib as Neoadjuvant Treatment Recruiting NCT03329937 Phase 1 Niraparib
35 Veliparib and Dinaciclib in Treating Patients With Advanced Solid Tumors Recruiting NCT01434316 Phase 1 Dinaciclib;Veliparib
36 Cancer Prevention in Women With a BRCA Mutation Recruiting NCT02225015 Phase 1
37 Mirvetuximab Soravtansine and Rucaparib Camsylate in Treating Participants With Recurrent Endometrial, Ovarian, Fallopian Tube or Primary Peritoneal Cancer Recruiting NCT03552471 Phase 1 Rucaparib Camsylate
38 Niraparib and Copanlisib in Treating Participants With Recurrent Endometrial, Ovarian, Primary Peritoneal, or Fallopian Tube Cancer Recruiting NCT03586661 Phase 1 Copanlisib;Niraparib
39 A Study to Assess the Safety and Pharmacokinetics of an Inhibitor of Poly ADP-Ribose Polymerase-1 (PARP) Active, not recruiting NCT00516373 Phase 1 KU-0059436 (AZD2281)(PARP inhibitor)
40 Copanlisib, Olaparib, and Durvalumab in Treating Patients With Metastatic or Unresectable Solid Tumors Not yet recruiting NCT03842228 Phase 1 Copanlisib;Copanlisib Hydrochloride;Olaparib
41 Talazoparib, Carboplatin, and Paclitaxel in Treating Patients With Solid Tumors That Are Metastatic or Cannot Be Removed by Surgery Suspended NCT02317874 Phase 1 Carboplatin;Paclitaxel;Talazoparib
42 Phase I Trial of Endoxifen Gel Versus Placebo in Women Undergoing Breast Surgery Suspended NCT03317405 Phase 1 Z-Endoxifen Hydrochloride
43 Bexarotene in Preventing Breast Cancer in Patients at High Risk for Breast Cancer Suspended NCT03323658 Phase 1 Bexarotene
44 Establishing the Incidences of BRCA1 and BRCA2 Mutation by Combining DHPLC and Direct Sequencing in Ovarian Cancer Unknown status NCT00155896
45 The Link Between BRCA Mutation and Endothelial Function Unknown status NCT02474264 Not Applicable
46 Transformation Potential of E2 Exposed Breast Cancer Susceptibility Gene Mutation Heterozygous Epithelial Breast Cells Unknown status NCT01907438
47 A Qualitative Exploration of the Impact of Positive BRCA1/2 Mutation Status on the Lives of Young Women Completed NCT00858078
48 Counseling Interventions for BRCA 1/2 Cancer Susceptibility Testing Completed NCT00165152 Not Applicable
49 Risk Education and Assessment for Cancer Heredity Completed NCT01346761 Not Applicable
50 A Nutritional Intervention to Decrease Breast Density Among Female BRCA (BReast CAncer Susceptibility Gene) Carriers Recruiting NCT02197000 Not Applicable

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Genetic Tests for Fanconi Anemia, Complementation Group S

Genetic tests related to Fanconi Anemia, Complementation Group S:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group S 30 BRCA1

Anatomical Context for Fanconi Anemia, Complementation Group S

MalaCards organs/tissues related to Fanconi Anemia, Complementation Group S:

42
Breast, Bone, Lung, Bone Marrow, Prostate, Brain, Testes

Publications for Fanconi Anemia, Complementation Group S

Articles related to Fanconi Anemia, Complementation Group S:

# Title Authors Year
1
Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients. ( 29133208 )
2018
2
Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1. ( 29712865 )
2018
3
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. ( 25472942 )
2015
4
Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer. ( 23269703 )
2013
5
FANCs regulate firing of DNA replication origins. ( 20647748 )
2010
6
Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. ( 11157798 )
2001

Variations for Fanconi Anemia, Complementation Group S

UniProtKB/Swiss-Prot genetic disease variations for Fanconi Anemia, Complementation Group S:

76
# Symbol AA change Variation ID SNP ID
1 BRCA1 p.Arg1699Trp VAR_075666 rs55770810

ClinVar genetic disease variations for Fanconi Anemia, Complementation Group S:

6 (show top 50) (show all 100)
# Gene Variation Type Significance SNP ID Assembly Location
1 BRCA1 NM_007294.3(BRCA1): c.181T> G (p.Cys61Gly) single nucleotide variant Pathogenic rs28897672 GRCh37 Chromosome 17, 41258504: 41258504
2 BRCA1 NM_007294.3(BRCA1): c.181T> G (p.Cys61Gly) single nucleotide variant Pathogenic rs28897672 GRCh38 Chromosome 17, 43106487: 43106487
3 BRCA1 NM_007294.3(BRCA1): c.4327C> T (p.Arg1443Ter) single nucleotide variant Pathogenic rs41293455 GRCh37 Chromosome 17, 41234451: 41234451
4 BRCA1 NM_007294.3(BRCA1): c.4327C> T (p.Arg1443Ter) single nucleotide variant Pathogenic rs41293455 GRCh38 Chromosome 17, 43082434: 43082434
5 BRCA1 NM_007294.3(BRCA1): c.211A> G (p.Arg71Gly) single nucleotide variant Pathogenic rs80357382 GRCh37 Chromosome 17, 41258474: 41258474
6 BRCA1 NM_007294.3(BRCA1): c.211A> G (p.Arg71Gly) single nucleotide variant Pathogenic rs80357382 GRCh38 Chromosome 17, 43106457: 43106457
7 BRCA1 NM_007294.3(BRCA1): c.1687C> T (p.Gln563Ter) single nucleotide variant Pathogenic rs80356898 GRCh37 Chromosome 17, 41245861: 41245861
8 BRCA1 NM_007294.3(BRCA1): c.1687C> T (p.Gln563Ter) single nucleotide variant Pathogenic rs80356898 GRCh38 Chromosome 17, 43093844: 43093844
9 BRCA1 NM_007294.3(BRCA1): c.2457delC (p.Asp821Ilefs) deletion Pathogenic rs80357669 GRCh37 Chromosome 17, 41245091: 41245091
10 BRCA1 NM_007294.3(BRCA1): c.2457delC (p.Asp821Ilefs) deletion Pathogenic rs80357669 GRCh38 Chromosome 17, 43093074: 43093074
11 BRCA1 NM_007294.3(BRCA1): c.4096+3A> G single nucleotide variant Uncertain significance rs80358015 GRCh37 Chromosome 17, 41243449: 41243449
12 BRCA1 NM_007294.3(BRCA1): c.4096+3A> G single nucleotide variant Uncertain significance rs80358015 GRCh38 Chromosome 17, 43091432: 43091432
13 BRCA1 NM_007294.3(BRCA1): c.446A> C (p.Glu149Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs397507233 GRCh37 Chromosome 17, 41251893: 41251893
14 BRCA1 NM_007294.3(BRCA1): c.446A> C (p.Glu149Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs397507233 GRCh38 Chromosome 17, 43099876: 43099876
15 BRCA1 NM_007294.3(BRCA1): c.5207T> C (p.Val1736Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs45553935 GRCh37 Chromosome 17, 41209139: 41209139
16 BRCA1 NM_007294.3(BRCA1): c.5207T> C (p.Val1736Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs45553935 GRCh38 Chromosome 17, 43057122: 43057122
17 BRCA1 NM_007294.3(BRCA1): c.3113A> G (p.Glu1038Gly) single nucleotide variant Benign rs16941 GRCh37 Chromosome 17, 41244435: 41244435
18 BRCA1 NM_007294.3(BRCA1): c.3113A> G (p.Glu1038Gly) single nucleotide variant Benign rs16941 GRCh38 Chromosome 17, 43092418: 43092418
19 BRCA1 NM_007294.3(BRCA1): c.110C> A (p.Thr37Lys) single nucleotide variant Pathogenic rs80356880 GRCh37 Chromosome 17, 41267767: 41267767
20 BRCA1 NM_007294.3(BRCA1): c.110C> A (p.Thr37Lys) single nucleotide variant Pathogenic rs80356880 GRCh38 Chromosome 17, 43115750: 43115750
21 BRCA1 NM_007294.3(BRCA1): c.1115G> A (p.Trp372Ter) single nucleotide variant Pathogenic rs397508838 GRCh37 Chromosome 17, 41246433: 41246433
22 BRCA1 NM_007294.3(BRCA1): c.1115G> A (p.Trp372Ter) single nucleotide variant Pathogenic rs397508838 GRCh38 Chromosome 17, 43094416: 43094416
23 BRCA1 NM_007294.3(BRCA1): c.1292T> G (p.Leu431Ter) single nucleotide variant Pathogenic rs80357346 GRCh37 Chromosome 17, 41246256: 41246256
24 BRCA1 NM_007294.3(BRCA1): c.1292T> G (p.Leu431Ter) single nucleotide variant Pathogenic rs80357346 GRCh38 Chromosome 17, 43094239: 43094239
25 BRCA1 NM_007294.3(BRCA1): c.131G> T (p.Cys44Phe) single nucleotide variant Pathogenic rs80357446 GRCh37 Chromosome 17, 41267746: 41267746
26 BRCA1 NM_007294.3(BRCA1): c.131G> T (p.Cys44Phe) single nucleotide variant Pathogenic rs80357446 GRCh38 Chromosome 17, 43115729: 43115729
27 BRCA1 NM_007294.3(BRCA1): c.1381T> C (p.Phe461Leu) single nucleotide variant Uncertain significance rs62625300 GRCh37 Chromosome 17, 41246167: 41246167
28 BRCA1 NM_007294.3(BRCA1): c.1381T> C (p.Phe461Leu) single nucleotide variant Uncertain significance rs62625300 GRCh38 Chromosome 17, 43094150: 43094150
29 BRCA1 NM_007294.3(BRCA1): c.2050C> T (p.Pro684Ser) single nucleotide variant Uncertain significance rs397508934 GRCh37 Chromosome 17, 41245498: 41245498
30 BRCA1 NM_007294.3(BRCA1): c.2050C> T (p.Pro684Ser) single nucleotide variant Uncertain significance rs397508934 GRCh38 Chromosome 17, 43093481: 43093481
31 BRCA1 NM_007294.3(BRCA1): c.241C> T (p.Gln81Ter) single nucleotide variant Pathogenic rs80357350 GRCh37 Chromosome 17, 41256945: 41256945
32 BRCA1 NM_007294.3(BRCA1): c.241C> T (p.Gln81Ter) single nucleotide variant Pathogenic rs80357350 GRCh38 Chromosome 17, 43104928: 43104928
33 BRCA1 NM_007294.3(BRCA1): c.2722G> T (p.Glu908Ter) single nucleotide variant Pathogenic rs80356978 GRCh37 Chromosome 17, 41244826: 41244826
34 BRCA1 NM_007294.3(BRCA1): c.2722G> T (p.Glu908Ter) single nucleotide variant Pathogenic rs80356978 GRCh38 Chromosome 17, 43092809: 43092809
35 BRCA1 NM_007294.3(BRCA1): c.3097G> T (p.Glu1033Ter) single nucleotide variant Pathogenic rs273899698 GRCh37 Chromosome 17, 41244451: 41244451
36 BRCA1 NM_007294.3(BRCA1): c.3097G> T (p.Glu1033Ter) single nucleotide variant Pathogenic rs273899698 GRCh38 Chromosome 17, 43092434: 43092434
37 BRCA1 NM_007294.3(BRCA1): c.3424G> C (p.Ala1142Pro) single nucleotide variant Uncertain significance rs80357101 GRCh37 Chromosome 17, 41244124: 41244124
38 BRCA1 NM_007294.3(BRCA1): c.3424G> C (p.Ala1142Pro) single nucleotide variant Uncertain significance rs80357101 GRCh38 Chromosome 17, 43092107: 43092107
39 BRCA1 NM_007294.3(BRCA1): c.3598C> T (p.Gln1200Ter) single nucleotide variant Pathogenic rs62625307 GRCh37 Chromosome 17, 41243950: 41243950
40 BRCA1 NM_007294.3(BRCA1): c.3598C> T (p.Gln1200Ter) single nucleotide variant Pathogenic rs62625307 GRCh38 Chromosome 17, 43091933: 43091933
41 BRCA1 NM_007294.3(BRCA1): c.3649T> C (p.Ser1217Pro) single nucleotide variant Uncertain significance rs273900712 GRCh37 Chromosome 17, 41243899: 41243899
42 BRCA1 NM_007294.3(BRCA1): c.3649T> C (p.Ser1217Pro) single nucleotide variant Uncertain significance rs273900712 GRCh38 Chromosome 17, 43091882: 43091882
43 BRCA1 NM_007294.3(BRCA1): c.3893C> A (p.Ser1298Ter) single nucleotide variant Pathogenic rs80357440 GRCh37 Chromosome 17, 41243655: 41243655
44 BRCA1 NM_007294.3(BRCA1): c.3893C> A (p.Ser1298Ter) single nucleotide variant Pathogenic rs80357440 GRCh38 Chromosome 17, 43091638: 43091638
45 BRCA1 NM_007294.3(BRCA1): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs80357475 GRCh37 Chromosome 17, 41276111: 41276111
46 BRCA1 NM_007294.3(BRCA1): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs80357475 GRCh38 Chromosome 17, 43124094: 43124094
47 BRCA1 NM_007294.3(BRCA1): c.4485-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs80358189 GRCh37 Chromosome 17, 41226539: 41226539
48 BRCA1 NM_007294.3(BRCA1): c.4485-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs80358189 GRCh38 Chromosome 17, 43074522: 43074522
49 BRCA1 NM_007294.3(BRCA1): c.4524G> A (p.Trp1508Ter) single nucleotide variant Pathogenic rs80356885 GRCh37 Chromosome 17, 41226499: 41226499
50 BRCA1 NM_007294.3(BRCA1): c.4524G> A (p.Trp1508Ter) single nucleotide variant Pathogenic rs80356885 GRCh38 Chromosome 17, 43074482: 43074482

Expression for Fanconi Anemia, Complementation Group S

Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group S.

Pathways for Fanconi Anemia, Complementation Group S

GO Terms for Fanconi Anemia, Complementation Group S

Sources for Fanconi Anemia, Complementation Group S

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