Neutropenia, Severe Congenital, 4, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Neutropenia, Severe Congenital, 4, Autosomal Recessive

MalaCards integrated aliases for Neutropenia, Severe Congenital, 4, Autosomal Recessive:

Name: Neutropenia, Severe Congenital, 4, Autosomal Recessive ⁵⁷

Dursun Syndrome ⁵⁷ ⁷³ ⁷¹

Neutropenia, Severe Congenital 4, Autosomal Recessive ⁵⁷ ⁷³

Scn4 ⁵⁷ ⁷³

Pulmonary Arterial Hypertension Leukopenia and Atrial Septal Defect ⁷³

Neutropenia, Severe Congenital, Type 4, Autosomal Recessive ³⁸

Neutropenia, Severe Congenital, Autosomal Recessive 4 ⁷¹

Severe Congenital Neutropenia 4, Autosomal Recessive ⁵

Durss ⁷³

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
variable phenotype
sepsis, neonatal

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Infectious diseases
Anatomical: Respiratory diseases Blood diseases Neuronal diseases Bone diseases Immune diseases Endocrine diseases

See all MalaCards categories (disease lists)

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Summaries for Neutropenia, Severe Congenital, 4, Autosomal Recessive

UniProtKB/Swiss-Prot ⁷³ Neutropenia, severe congenital 4, autosomal recessive: A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections.

Dursun syndrome: A disease characterized by pulmonary arterial hypertension, cardiac abnormalities including secundum-type atrial septal defect, intermittent neutropenia, lymphopenia, monocytosis and anemia.

MalaCards based summary: Neutropenia, Severe Congenital, 4, Autosomal Recessive, also known as dursun syndrome, is related to severe congenital neutropenia 4 and pulmonary hypertension, primary, 1. An important gene associated with Neutropenia, Severe Congenital, 4, Autosomal Recessive is G6PC3 (Glucose-6-Phosphatase Catalytic Subunit 3). Affiliated tissues include neutrophil, bone marrow and bone, and related phenotypes are global developmental delay and hydronephrosis

More information from OMIM: 612541 PS202700

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Related Diseases for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Diseases in the Neutropenia family:

Neutropenia, Chronic Familial	Neutropenia, Severe Congenital, 1, Autosomal Dominant
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia, Severe Congenital, 9, Autosomal Dominant
Severe Congenital Neutropenia	Severe Congenital Neutropenia 1
Severe Congenital Neutropenia 7	Autosomal Dominant Severe Congenital Neutropenia
Severe Congenital Neutropenia 2	Severe Congenital Neutropenia 5
Severe Congenital Neutropenia 3	Severe Congenital Neutropenia 6
Severe Congenital Neutropenia 8	Severe Congenital Neutropenia 4
Elane-Related Neutropenia	Acquired Neutropenia
Autosomal Recessive Severe Congenital Neutropenia

Diseases related to Neutropenia, Severe Congenital, 4, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)

#	Related Disease	Score
1	severe congenital neutropenia 4	11.2
2	pulmonary hypertension, primary, 1	10.0
3	pulmonary hypertension	10.0
4	heart septal defect	10.0
5	atrial heart septal defect	10.0
6	interatrial communication	10.0
7	dilution, pigmentary	9.9
8	inflammatory bowel disease 1	9.9
9	albinism, oculocutaneous, type iv	9.9
10	severe congenital neutropenia	9.9
11	oculocutaneous albinism	9.9
12	neutropenia	9.9
13	crohn's disease	9.9
14	g6pc3 deficiency	9.9
15	albinism	9.9

Graphical network of the top 20 diseases related to Neutropenia, Severe Congenital, 4, Autosomal Recessive:

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Symptoms & Phenotypes for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Human phenotypes related to Neutropenia, Severe Congenital, 4, Autosomal Recessive:

³⁰ (show all 50)

#	Description	HPO Frequency	HPO Source Accession
1	global developmental delay ³⁰	Occasional (7.5%)	HP:0001263
2	hydronephrosis ³⁰	Occasional (7.5%)	HP:0000126
3	inguinal hernia ³⁰	Very rare (1%)	HP:0000023
4	microcephaly ³⁰	Very rare (1%)	HP:0000252
5	sensorineural hearing impairment ³⁰	Very rare (1%)	HP:0000407
6	myopathy ³⁰	Very rare (1%)	HP:0003198
7	recurrent upper respiratory tract infections ³⁰	Very rare (1%)	HP:0002788
8	cleft palate ³⁰	Very rare (1%)	HP:0000175
9	cryptorchidism ³⁰	Very rare (1%)	HP:0000028
10	mitral regurgitation ³⁰	Very rare (1%)	HP:0001653
11	patent ductus arteriosus ³⁰	Very rare (1%)	HP:0001643
12	otitis media ³⁰	Very rare (1%)	HP:0000388
13	recurrent urinary tract infections ³⁰	Very rare (1%)	HP:0000010
14	pulmonic stenosis ³⁰	Very rare (1%)	HP:0001642
15	neutropenia ³⁰	Very rare (1%)	HP:0001875
16	hepatosplenomegaly ³⁰	Very rare (1%)	HP:0001433
17	oral ulcer ³⁰	Very rare (1%)	HP:0000155
18	panniculitis ³⁰	Very rare (1%)	HP:0012490
19	secundum atrial septal defect ³⁰	Very rare (1%)	HP:0001684
20	prominent superficial veins ³⁰	Very rare (1%)	HP:0001015
21	recurrent lower respiratory tract infections ³⁰	Very rare (1%)	HP:0002783
22	perianal abscess ³⁰	Very rare (1%)	HP:0009789
23	neonatal sepsis ³⁰	Very rare (1%)	HP:0040187
24	neonatal omphalitis ³⁰	Very rare (1%)	HP:0032435
25	urachus fistula ³⁰	Very rare (1%)	HP:0100525
26	intermittent thrombocytopenia ³⁰	Very rare (1%)	HP:0004854
27	cor triatriatum ³⁰	Very rare (1%)	HP:0010774
28	failure to thrive ³⁰		HP:0001508
29	high palate ³⁰		HP:0000218
30	respiratory insufficiency ³⁰		HP:0002093
31	hearing impairment ³⁰		HP:0000365
32	splenomegaly ³⁰		HP:0001744
33	hepatomegaly ³⁰		HP:0002240
34	recurrent respiratory infections ³⁰		HP:0002205
35	wide nasal bridge ³⁰		HP:0000431
36	pectus carinatum ³⁰		HP:0000768
37	broad thumb ³⁰		HP:0011304
38	anemia ³⁰		HP:0001903
39	growth delay ³⁰		HP:0001510
40	thrombocytopenia ³⁰		HP:0001873
41	lymphopenia ³⁰		HP:0001888
42	hypoplasia of the thymus ³⁰		HP:0000778
43	varicose veins ³⁰		HP:0002619
44	pulmonary arterial hypertension ³⁰		HP:0002092
45	single transverse palmar crease ³⁰		HP:0000954
46	leukopenia ³⁰		HP:0001882
47	clinodactyly ³⁰		HP:0030084
48	recurrent bacterial infections ³⁰		HP:0002718
49	erythroid hypoplasia ³⁰		HP:0012133
50	monocytosis ³⁰		HP:0012311

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Growth Other:
failure to thrive
poor growth

Abdomen Spleen:
splenomegaly

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Skin:
varicose veins
prominent superficial venous pattern
venous angiectasia
venous stasis ulcer

Skeletal Hands:
clinodactyly
broad thumbs
simian crease
proximal localization of thumb

Head And Neck Nose:
broad nasal bridge

Genitourinary Kidneys:
hydronephrosis (1 patient)
renal agenesis, unilateral (1 patient)

Head And Neck Ears:
hearing loss (reported in 2 patients)

Endocrine Features:
poor secondary sexual development (1 family)
delayed or incomplete puberty (1 family)
increased serum tsh (2 patients)

Respiratory:
respiratory insufficiency
recurrent respiratory infections

Abdomen Liver:
hepatomegaly

Hematology:
anemia
thrombocytopenia
lymphopenia
neutropenia
leukopenia
more

Cardiovascular Vascular:
patent ductus arteriosus
pulmonary arterial hypertension (in 3 patients)

Immunology:
neutropenia
thymus hypoplasia
increased susceptibility to bacterial infections
few mature neutrophils in the bone marrow

Cardiovascular Heart:
cor triatriatum
pulmonary valve stenosis
atrial septal defect, secundum type
mitral insufficiency

Head And Neck Mouth:
high-arched palate
cleft palate (reported in 1 patient)

Head And Neck Head:
microcephaly (reported in 2 patients)

Neurologic Central Nervous System:
delayed development (1 family)
learning disabilities (1 family)

Clinical features from OMIM®:

612541 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Search Clinical Trials, NIH Clinical Center for Neutropenia, Severe Congenital, 4, Autosomal Recessive

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Genetic Tests for Neutropenia, Severe Congenital, 4, Autosomal Recessive

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Anatomical Context for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Organs/tissues related to Neutropenia, Severe Congenital, 4, Autosomal Recessive:

MalaCards : Neutrophil, Bone Marrow, Bone, Thymus, Myeloid, Lung, Kidney

ODiseA: Blood And Bone Marrow, Respiratory System-Lung, Respiratory System, Kidney

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Publications for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Articles related to Neutropenia, Severe Congenital, 4, Autosomal Recessive:

(show all 29)

#	Title	Authors	PMID	Year
1	Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3. ⁶² ⁵⁷ ⁵	Banka S...Shalev S	20717171	2011
2	Mutations in the G6PC3 gene cause Dursun syndrome. ⁶² ⁵⁷ ⁵	Banka S...Dursun A	20799326	2010
3	Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis. ⁵⁷ ⁵	McDermott DH...Murphy PM	20616219	2010
4	Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement. ⁵⁷ ⁵	Dursun A...Morse JH	19011569	2009
5	A syndrome with congenital neutropenia and mutations in G6PC3. ⁵⁷ ⁵	Boztug K...Klein C	19118303	2009
6	Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations. ⁶² ⁵	Notarangelo LD...Porta F	25391451	2014
7	Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency. ⁵⁷	Veiga-da-Cunha M...Van Schaftingen E	30626647	2019
8	Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry. ⁵	Desplantes C...Donadieu J	25491320	2014
9	Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia. ⁵	Boztug K...Klein C	22050868	2012
10	A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia. ⁵⁷	Arostegui JI...Diaz de Heredia C	19696212	2009
11	Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review. ⁶²	Velez-Tirado N...Lugo Reyes SO	34964150	2022
12	The GmSNAP11 Contributes to Resistance to Soybean Cyst Nematode Race 4 in Glycine max. ⁶²	Shaibu AS...Li B	35860531	2022
13	Full-Length Transcriptional Analysis of the Same Soybean Genotype With Compatible and Incompatible Reactions to Heterodera glycines Reveals Nematode Infection Activating Plant Defense Response. ⁶²	Huang M...Wang C	35665156	2022
14	Gene variant effects across sodium channelopathies predict function and guide precision therapy. ⁶²	Brunklaus A...Schorge S	35037686	2022
15	[Network pharmacology study of Tibetan medicine Corydalis Herba against acute myocardial ischemia]. ⁶²	Zhou XC...Chai XY	34467696	2021
16	Anaesthesia challenges of a parturient with paramyotonia congenita and terminal filum lipoma presenting for labour and caesarean section under epidural anaesthesia - a case report. ⁶²	Siow WS...Chiew WA	33602114	2021
17	Genome-Wide Association Study of Seed Folate Content in Common Bean. ⁶²	Martin CJ...Pauls KP	34531882	2021
18	Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature. ⁶²	Maroufi SF...Rezaei N	34137364	2021
19	Altered Functions of Neutrophils in Two Chinese Patients With Severe Congenital Neutropenia Type 4 Caused by G6PC3 Mutations. ⁶²	Dai R...Zhao X	34305938	2021
20	Reliability of breeding values for feed intake and feed efficiency traits in dairy cattle: When dry matter intake recordings are sparse under different scenarios. ⁶²	Negussie E...Lidauer MH	31155258	2019
21	Effects of seasonal acclimatization on thermal tolerance of inward currents in roach (Rutilus rutilus) cardiac myocytes. ⁶²	Badr A...Vornanen M	28942482	2018
22	Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes. ⁶²	Chou JY...Mansfield BC	25288127	2015
23	G6PC3 Deficiency ⁶²	Banka S	25879134	2015
24	Dursun syndrome due to G6PC3 gene defect has a fluctuating pattern in all blood cell lines. ⁶²	Ozgul RK...Dursun A	24549407	2014
25	A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency. ⁶²	Estevez OA...Santamaria M	23441086	2013
26	A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations. ⁶²	Banka S...Newman WG	23758768	2013
27	Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype. ⁶²	Fernandez BA...FORGE Canada Consortium	23171239	2012
28	A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification. ⁶²	Ferriby D...Vermersch P	16624558	2006
29	Stable gold(III) complexes with thiosemicarbazone derivatives. ⁶²	Santos IG...Abram U	15252533	2004

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Genes for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Genes related to Neutropenia, Severe Congenital, 4, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	G6PC3	Glucose-6-Phosphatase Catalytic Subunit 3	Protein Coding	1232.95	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	19011569 19118303 20717171 (more) 20799326 22050868 25491320 25391451

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Variations for Neutropenia, Severe Congenital, 4, Autosomal Recessive

ClinVar genetic disease variations for Neutropenia, Severe Congenital, 4, Autosomal Recessive:

⁵ (show top 50) (show all 192)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	G6PC3	NM_138387.4(G6PC3):c.554T>C (p.Leu185Pro)	SNV	Pathogenic	1038	rs118203969	GRCh37: 17:42152696-42152696 GRCh38: 17:44075328-44075328
2	G6PC3	NM_138387.4(G6PC3):c.141C>G (p.Tyr47Ter)	SNV	Pathogenic	1039	rs118203970	GRCh37: 17:42148474-42148474 GRCh38: 17:44071106-44071106
3	G6PC3	NM_138387.4(G6PC3):c.784G>C (p.Gly262Arg)	SNV	Pathogenic	1040	rs118203971	GRCh37: 17:42153154-42153154 GRCh38: 17:44075786-44075786
4	G6PC3	NM_138387.4(G6PC3):c.565C>T (p.Arg189Ter)	SNV	Pathogenic	653016	rs745582203	GRCh37: 17:42152707-42152707 GRCh38: 17:44075339-44075339
5	G6PC3	NM_138387.4(G6PC3):c.464del (p.Leu155fs)	DEL	Pathogenic	935219	rs1295168770	GRCh37: 17:42152381-42152381 GRCh38: 17:44075013-44075013
6	G6PC3	NM_138387.4(G6PC3):c.218+1G>A	SNV	Pathogenic	1430600		GRCh37: 17:42148552-42148552 GRCh38: 17:44071184-44071184
7	G6PC3	NM_138387.4(G6PC3):c.635del (p.Leu212fs)	DEL	Pathogenic	1451174		GRCh37: 17:42152777-42152777 GRCh38: 17:44075409-44075409
8	G6PC3	NM_138387.4(G6PC3):c.765_766del (p.Ala257fs)	DEL	Pathogenic	1342134		GRCh37: 17:42153135-42153136 GRCh38: 17:44075767-44075768
9	G6PC3	NM_138387.4(G6PC3):c.935dup (p.Asn313fs)	DUP	Pathogenic	189784	rs797044567	GRCh37: 17:42153301-42153302 GRCh38: 17:44075933-44075934
10	G6PC3	NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser)	SNV	Pathogenic	189781	rs775224457	GRCh37: 17:42148463-42148463 GRCh38: 17:44071095-44071095
11	G6PC3	NM_138387.4(G6PC3):c.144C>A (p.Tyr48Ter)	SNV	Pathogenic	1705639		GRCh37: 17:42148477-42148477 GRCh38: 17:44071109-44071109
12	G6PC3	NM_138387.4(G6PC3):c.210del (p.Phe71fs)	DEL	Pathogenic	189782	rs769441127	GRCh37: 17:42148543-42148543 GRCh38: 17:44071175-44071175
13	G6PC3	NM_138387.4(G6PC3):c.758G>A (p.Arg253His)	SNV	Pathogenic	1037	rs118203968	GRCh37: 17:42153128-42153128 GRCh38: 17:44075760-44075760
14	G6PC3	NM_138387.4(G6PC3):c.207dup (p.Ile70fs)	DUP	Pathogenic	691992	rs1191239079	GRCh37: 17:42148539-42148540 GRCh38: 17:44071171-44071172
15	G6PC3	NM_138387.4(G6PC3):c.346A>G (p.Met116Val)	SNV	Pathogenic	1042	rs267606834	GRCh37: 17:42152068-42152068 GRCh38: 17:44074700-44074700
16	G6PC3	NM_138387.4(G6PC3):c.199_218+1del	DEL	Pathogenic	691994	rs1597905369	GRCh37: 17:42148527-42148547 GRCh38: 17:44071159-44071179
17	G6PC3	NM_138387.4(G6PC3):c.677+1G>A	SNV	Likely Pathogenic	1066709		GRCh37: 17:42152820-42152820 GRCh38: 17:44075452-44075452
18	G6PC3	NM_138387.4(G6PC3):c.337G>A (p.Gly113Arg)	SNV	Likely Pathogenic	1339525		GRCh37: 17:42152059-42152059 GRCh38: 17:44074691-44074691
19	G6PC3	NM_138387.4(G6PC3):c.144C>G (p.Tyr48Ter)	SNV	Likely Pathogenic	632283	rs1194477276	GRCh37: 17:42148477-42148477 GRCh38: 17:44071109-44071109
20	G6PC3	NM_138387.4(G6PC3):c.566G>A (p.Arg189Gln)	SNV	Conflicting Interpretations Of Pathogenicity	262367	rs140294222	GRCh37: 17:42152708-42152708 GRCh38: 17:44075340-44075340
21	G6PC3	NM_138387.4(G6PC3):c.201C>T (p.Leu67=)	SNV	Conflicting Interpretations Of Pathogenicity	323461	rs375273894	GRCh37: 17:42148534-42148534 GRCh38: 17:44071166-44071166
22	G6PC3	NM_138387.4(G6PC3):c.687C>T (p.Ser229=)	SNV	Conflicting Interpretations Of Pathogenicity	734136	rs377343204	GRCh37: 17:42153057-42153057 GRCh38: 17:44075689-44075689
23	G6PC3	NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg)	SNV	Conflicting Interpretations Of Pathogenicity	30874	rs200478425	GRCh37: 17:42153148-42153148 GRCh38: 17:44075780-44075780
24	G6PC3	NM_138387.4(G6PC3):c.142T>G (p.Tyr48Asp)	SNV	Uncertain Significance	1717434		GRCh37: 17:42148475-42148475 GRCh38: 17:44071107-44071107
25	G6PC3	NM_138387.4(G6PC3):c.203A>G (p.Asn68Ser)	SNV	Uncertain Significance	1715418		GRCh37: 17:42148536-42148536 GRCh38: 17:44071168-44071168
26	G6PC3	NM_138387.4(G6PC3):c.484A>G (p.Ile162Val)	SNV	Uncertain Significance	847646	rs148030756	GRCh37: 17:42152404-42152404 GRCh38: 17:44075036-44075036
27	G6PC3	NM_138387.4(G6PC3):c.757C>T (p.Arg253Cys)	SNV	Uncertain Significance	960968	rs765927570	GRCh37: 17:42153127-42153127 GRCh38: 17:44075759-44075759
28	G6PC3	NM_138387.4(G6PC3):c.300C>A (p.Phe100Leu)	SNV	Uncertain Significance	1384667		GRCh37: 17:42151609-42151609 GRCh38: 17:44074241-44074241
29	G6PC3	NM_138387.4(G6PC3):c.184C>T (p.Leu62Phe)	SNV	Uncertain Significance	1402926		GRCh37: 17:42148517-42148517 GRCh38: 17:44071149-44071149
30	G6PC3	NM_138387.4(G6PC3):c.50A>C (p.Asn17Thr)	SNV	Uncertain Significance	576699	rs375162061	GRCh37: 17:42148383-42148383 GRCh38: 17:44071015-44071015
31	G6PC3	NM_138387.4(G6PC3):c.809A>G (p.Tyr270Cys)	SNV	Uncertain Significance	1163100		GRCh37: 17:42153179-42153179 GRCh38: 17:44075811-44075811
32	G6PC3	NM_138387.4(G6PC3):c.1030C>T (p.His344Tyr)	SNV	Uncertain Significance	1336708		GRCh37: 17:42153400-42153400 GRCh38: 17:44076032-44076032
33	G6PC3	NM_138387.4(G6PC3):c.910C>T (p.Pro304Ser)	SNV	Uncertain Significance	1385278		GRCh37: 17:42153280-42153280 GRCh38: 17:44075912-44075912
34	G6PC3	NM_138387.4(G6PC3):c.643T>C (p.Trp215Arg)	SNV	Uncertain Significance	1308391		GRCh37: 17:42152785-42152785 GRCh38: 17:44075417-44075417
35	G6PC3	NM_138387.4(G6PC3):c.86T>C (p.Ile29Thr)	SNV	Uncertain Significance	1362301		GRCh37: 17:42148419-42148419 GRCh38: 17:44071051-44071051
36	G6PC3	NM_138387.4(G6PC3):c.412C>T (p.Arg138Cys)	SNV	Uncertain Significance	1439836		GRCh37: 17:42152134-42152134 GRCh38: 17:44074766-44074766
37	G6PC3	NM_138387.4(G6PC3):c.732T>A (p.Asp244Glu)	SNV	Uncertain Significance	1465199		GRCh37: 17:42153102-42153102 GRCh38: 17:44075734-44075734
38	G6PC3	NM_138387.4(G6PC3):c.731A>G (p.Asp244Gly)	SNV	Uncertain Significance	1469571		GRCh37: 17:42153101-42153101 GRCh38: 17:44075733-44075733
39	G6PC3	NM_138387.4(G6PC3):c.358G>T (p.Ala120Ser)	SNV	Uncertain Significance	1470969		GRCh37: 17:42152080-42152080 GRCh38: 17:44074712-44074712
40	G6PC3	NM_138387.4(G6PC3):c.536-4C>G	SNV	Uncertain Significance	1473263		GRCh37: 17:42152674-42152674 GRCh38: 17:44075306-44075306
41	G6PC3	NM_138387.4(G6PC3):c.806_808del (p.Cys269del)	DEL	Uncertain Significance	1492675		GRCh37: 17:42153174-42153176 GRCh38: 17:44075806-44075808
42	G6PC3	NM_138387.4(G6PC3):c.937A>T (p.Asn313Tyr)	SNV	Uncertain Significance	1470804		GRCh37: 17:42153307-42153307 GRCh38: 17:44075939-44075939
43	G6PC3	NM_138387.4(G6PC3):c.736C>T (p.Arg246Trp)	SNV	Uncertain Significance	1472871		GRCh37: 17:42153106-42153106 GRCh38: 17:44075738-44075738
44	G6PC3	NM_138387.4(G6PC3):c.145G>A (p.Ala49Thr)	SNV	Uncertain Significance	1480794		GRCh37: 17:42148478-42148478 GRCh38: 17:44071110-44071110
45	G6PC3	NM_138387.4(G6PC3):c.710G>A (p.Arg237Gln)	SNV	Uncertain Significance	1504493		GRCh37: 17:42153080-42153080 GRCh38: 17:44075712-44075712
46	G6PC3	NM_138387.4(G6PC3):c.56T>C (p.Leu19Pro)	SNV	Uncertain Significance	1504772		GRCh37: 17:42148389-42148389 GRCh38: 17:44071021-44071021
47	G6PC3	NM_138387.4(G6PC3):c.98G>A (p.Gly33Asp)	SNV	Uncertain Significance	1514976		GRCh37: 17:42148431-42148431 GRCh38: 17:44071063-44071063
48	G6PC3	NM_138387.4(G6PC3):c.110T>G (p.Ile37Ser)	SNV	Uncertain Significance	1515006		GRCh37: 17:42148443-42148443 GRCh38: 17:44071075-44071075
49	G6PC3	NM_138387.4(G6PC3):c.824G>A (p.Arg275Gln)	SNV	Uncertain Significance	850327	rs765872526	GRCh37: 17:42153194-42153194 GRCh38: 17:44075826-44075826
50	G6PC3	NM_138387.4(G6PC3):c.908C>A (p.Pro303His)	SNV	Uncertain Significance	851336	rs776556492	GRCh37: 17:42153278-42153278 GRCh38: 17:44075910-44075910

UniProtKB/Swiss-Prot genetic disease variations for Neutropenia, Severe Congenital, 4, Autosomal Recessive:

⁷³ (show all 20)

#	Symbol	AA change	Variation ID	SNP ID
1	G6PC3	p.Leu185Pro	VAR_055156	rs118203969
2	G6PC3	p.Arg253His	VAR_055157	rs118203968
3	G6PC3	p.Gly262Arg	VAR_055158	rs118203971
4	G6PC3	p.Met116Lys	VAR_064508
5	G6PC3	p.Met116Val	VAR_064509	rs267606834
6	G6PC3	p.Arg189Gln	VAR_064510	rs140294222
7	G6PC3	p.Gly260Arg	VAR_064511	rs200478425
8	G6PC3	p.Pro44Ser	VAR_072753	rs775224457
9	G6PC3	p.Trp59Arg	VAR_072754	rs752966267
10	G6PC3	p.Met116Thr	VAR_072756
11	G6PC3	p.Ser139Ile	VAR_072757
12	G6PC3	p.Leu154Pro	VAR_072758
13	G6PC3	p.Leu208Arg	VAR_072759
14	G6PC3	p.Gly260Asp	VAR_072760
15	G6PC3	p.Leu325Arg	VAR_072761
16	G6PC3	p.Pro44Leu	VAR_073174	rs762019955
17	G6PC3	p.Met116Ile	VAR_073175	rs1373865222
18	G6PC3	p.Thr118Arg	VAR_073176	rs766706036
19	G6PC3	p.Arg161Gln	VAR_073177	rs1485073209
20	G6PC3	p.Arg253Cys	VAR_073178	rs765927570

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Expression for Neutropenia, Severe Congenital, 4, Autosomal Recessive

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SCN4 MCID: NTR050 MIFTS: 37	Neutropenia, Severe Congenital, 4, Autosomal Recessive (SCN4) Categories: Blood diseases, Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Neutropenia, Severe Congenital, 4, Autosomal Recessive (SCN4)

Aliases & Classifications for Neutropenia, Severe Congenital, 4, Autosomal Recessive

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