MCID: ICH016
MIFTS: 20

Ichthyosis Lamellar 3

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ichthyosis Lamellar 3

MalaCards integrated aliases for Ichthyosis Lamellar 3:

Name: Ichthyosis Lamellar 3 20
Lamellar Ichthyosis, Type 3 20 6
Ichthyosis Congenita Iii 20
Ichthyosis, Lamellar, 3 70

Classifications:



External Ids:

UMLS 70 C1858142

Summaries for Ichthyosis Lamellar 3

MalaCards based summary : Ichthyosis Lamellar 3, also known as lamellar ichthyosis, type 3, is related to ichthyosis, congenital, autosomal recessive 5 and autosomal recessive congenital ichthyosis. An important gene associated with Ichthyosis Lamellar 3 is CYP4F22 (Cytochrome P450 Family 4 Subfamily F Member 22). Affiliated tissues include Epidermis.

Related Diseases for Ichthyosis Lamellar 3

Graphical network of the top 20 diseases related to Ichthyosis Lamellar 3:



Diseases related to Ichthyosis Lamellar 3

Symptoms & Phenotypes for Ichthyosis Lamellar 3

Drugs & Therapeutics for Ichthyosis Lamellar 3

Search Clinical Trials , NIH Clinical Center for Ichthyosis Lamellar 3

Genetic Tests for Ichthyosis Lamellar 3

Anatomical Context for Ichthyosis Lamellar 3

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Ichthyosis Lamellar 3:
# Tissue Anatomical CompartmentCell Relevance
1 Epidermis Stratified Epidermis Corneocytes Affected by disease
2 Epidermis Stratified Epidermis Granular Keratinocytes Affected by disease
3 Epidermis Stratified Epidermis Spinous Keratinocytes Affected by disease

Publications for Ichthyosis Lamellar 3

Articles related to Ichthyosis Lamellar 3:

(showing 14, show less)
# Title Authors PMID Year
1
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. 61 6
16436457 2006
2
Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child. 6
33223529 2021
3
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis. 6
30011118 2018
4
Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations. 6
27449533 2017
5
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients. 6
27025581 2016
6
Autosomal recessive congenital ichthyoses in the Czech Republic. 6
25998749 2016
7
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis. 6
26762237 2016
8
Genotype and Anterior Segment Phenotype in a Cohort of Turkish Patients with Lamellar Ichthyosis. 6
24397709 2015
9
Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population. 6
23621129 2013
10
Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean. 6
23871423 2013
11
Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases. 6
22992804 2013
12
Rapid detection of homozygous mutations in congenital recessive ichthyosis. 6
18034255 2008
13
Pott Disease in a 14-year-old Girl Affected by Congenital Lamellar Ichthyosis Type 3 and Diabetes Mellitus. 61
30166818 2018
14
Kava dermopathy in Fiji: an acquired ichthyosis? 61
25069767 2014

Variations for Ichthyosis Lamellar 3

ClinVar genetic disease variations for Ichthyosis Lamellar 3:

6 (showing 112, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYP4F22 NM_173483.4(CYP4F22):c.1306C>G (p.His436Asp) SNV Pathogenic 910 rs118203936 GRCh37: 19:15659984-15659984
GRCh38: 19:15549173-15549173
2 CYP4F22 NM_173483.4(CYP4F22):c.728G>A (p.Arg243His) SNV Pathogenic 911 rs118203937 GRCh37: 19:15651317-15651317
GRCh38: 19:15540506-15540506
3 CYP4F22 CYP4F22, EX3-12DEL Deletion Pathogenic 912 GRCh37:
GRCh38:
4 CYP4F22 CYP4F22, TRP521TER SNV Pathogenic 39560 GRCh37:
GRCh38:
5 CYP4F22 NM_173483.4(CYP4F22):c.493_499delinsCTTGATT (p.Phe165_Ile167delinsLeuAspPhe) Indel Pathogenic 560307 rs1568360348 GRCh37: 19:15648417-15648423
GRCh38: 19:15537606-15537612
6 CYP4F22 NM_173483.4(CYP4F22):c.550-2A>T SNV Pathogenic 560308 rs1568360475 GRCh37: 19:15648681-15648681
GRCh38: 19:15537870-15537870
7 CYP4F22 NM_173483.4(CYP4F22):c.592G>T (p.Asp198Tyr) SNV Pathogenic 560309 rs1568360526 GRCh37: 19:15648725-15648725
GRCh38: 19:15537914-15537914
8 CYP4F22 NM_173483.4(CYP4F22):c.641_642GT[1] (p.Val215fs) Microsatellite Pathogenic 560310 rs1568360554 GRCh37: 19:15648773-15648774
GRCh38: 19:15537962-15537963
9 CYP4F22 NM_173483.4(CYP4F22):c.847C>T (p.Arg283Trp) SNV Pathogenic 560311 rs755885838 GRCh37: 19:15651436-15651436
GRCh38: 19:15540625-15540625
10 CYP4F22 NM_173483.4(CYP4F22):c.917T>C (p.Ile306Thr) SNV Pathogenic 560312 rs370734976 GRCh37: 19:15651506-15651506
GRCh38: 19:15540695-15540695
11 CYP4F22 NM_173483.4(CYP4F22):c.1351C>T (p.Arg451Cys) SNV Pathogenic 560313 rs200581968 GRCh37: 19:15661500-15661500
GRCh38: 19:15550689-15550689
12 CYP4F22 NM_173483.4(CYP4F22):c.1488C>G (p.Phe496Leu) SNV Pathogenic 560314 rs1568365205 GRCh37: 19:15662174-15662174
GRCh38: 19:15551363-15551363
13 CYP4F22 NM_173483.4(CYP4F22):c.1532A>G (p.Glu511Gly) SNV Pathogenic 560315 rs1167473603 GRCh37: 19:15662218-15662218
GRCh38: 19:15551407-15551407
14 CYP4F22 NM_173483.4(CYP4F22):c.1352G>C (p.Arg451Pro) SNV Pathogenic 560317 rs144961059 GRCh37: 19:15661501-15661501
GRCh38: 19:15550690-15550690
15 CYP4F22 NM_173483.4(CYP4F22):c.940-1G>A SNV Pathogenic 560318 rs1568362605 GRCh37: 19:15654781-15654781
GRCh38: 19:15543970-15543970
16 CYP4F22 NM_173483.4(CYP4F22):c.421+1G>A SNV Pathogenic 560319 rs773886415 GRCh37: 19:15648226-15648226
GRCh38: 19:15537415-15537415
17 CYP4F22 NM_173483.4(CYP4F22):c.467G>A (p.Arg156His) SNV Pathogenic 560320 rs776275777 GRCh37: 19:15648391-15648391
GRCh38: 19:15537580-15537580
18 CYP4F22 NM_173483.4(CYP4F22):c.697A>C (p.Ile233Leu) SNV Pathogenic 560321 rs1568361250 GRCh37: 19:15651286-15651286
GRCh38: 19:15540475-15540475
19 CYP4F22 NM_173483.4(CYP4F22):c.1163C>A (p.Thr388Lys) SNV Pathogenic 560322 rs1568364117 GRCh37: 19:15658945-15658945
GRCh38: 19:15548134-15548134
20 CYP4F22 NM_173483.4(CYP4F22):c.912C>A (p.Asp304Glu) SNV Pathogenic 560323 rs1159994392 GRCh37: 19:15651501-15651501
GRCh38: 19:15540690-15540690
21 CYP4F22 NM_173483.4(CYP4F22):c.1137-18_1137-4del Deletion Pathogenic 560324 rs1568364101 GRCh37: 19:15658901-15658915
GRCh38: 19:15548090-15548104
22 CYP4F22 NM_173483.4(CYP4F22):c.1084C>G (p.Arg362Gly) SNV Pathogenic 560325 rs745368359 GRCh37: 19:15655038-15655038
GRCh38: 19:15544227-15544227
23 CYP4F22 NM_173483.4(CYP4F22):c.981del (p.Glu328fs) Deletion Pathogenic 560327 rs1568362644 GRCh37: 19:15654822-15654822
GRCh38: 19:15544011-15544011
24 CYP4F22 NM_173483.4(CYP4F22):c.1114C>T (p.Arg372Trp) SNV Pathogenic 560328 rs201129618 GRCh37: 19:15655068-15655068
GRCh38: 19:15544257-15544257
25 CYP4F22 NM_173483.4(CYP4F22):c.727C>T (p.Arg243Cys) SNV Pathogenic 560330 rs768098854 GRCh37: 19:15651316-15651316
GRCh38: 19:15540505-15540505
26 CYP4F22 NM_173483.4(CYP4F22):c.466C>T (p.Arg156Cys) SNV Pathogenic 560331 rs770500550 GRCh37: 19:15648390-15648390
GRCh38: 19:15537579-15537579
27 CYP4F22 NM_173483.4(CYP4F22):c.1563G>A (p.Trp521Ter) SNV Pathogenic 560332 rs1360295659 GRCh37: 19:15662249-15662249
GRCh38: 19:15551438-15551438
28 CYP4F22 NM_173483.4(CYP4F22):c.429dup (p.Leu144fs) Duplication Pathogenic 560333 rs1382435790 GRCh37: 19:15648350-15648351
GRCh38: 19:15537539-15537540
29 CYP4F22 NM_173483.4(CYP4F22):c.367+1G>A SNV Pathogenic 560336 rs1568357749 GRCh37: 19:15640665-15640665
GRCh38: 19:15529854-15529854
30 CYP4F22 NM_173483.4(CYP4F22):c.1085G>A (p.Arg362Gln) SNV Pathogenic 560337 rs769229606 GRCh37: 19:15655039-15655039
GRCh38: 19:15544228-15544228
31 CYP4F22 NM_173483.4(CYP4F22):c.549+5G>C SNV Pathogenic 560338 rs1568360387 GRCh37: 19:15648478-15648478
GRCh38: 19:15537667-15537667
32 CYP4F22 NM_173483.3(CYP4F22):c.1138del (p.Asp380Thrfs) Deletion Pathogenic 560339 rs1568364107 GRCh37: 19:15658918-15658918
GRCh38: 19:15548107-15548107
33 CYP4F22 NM_173483.4(CYP4F22):c.242G>A (p.Gly81Asp) SNV Pathogenic 560306 rs369811073 GRCh37: 19:15640539-15640539
GRCh38: 19:15529728-15529728
34 CYP4F22 NM_173483.4(CYP4F22):c.314C>T (p.Pro105Leu) SNV Pathogenic 432683 rs749972738 GRCh37: 19:15640611-15640611
GRCh38: 19:15529800-15529800
35 CYP4F22 NM_173483.4(CYP4F22):c.716_719TGTC[1] (p.Val241fs) Microsatellite Pathogenic 560316 rs751937099 GRCh37: 19:15651303-15651306
GRCh38: 19:15540492-15540495
36 CYP4F22 NM_173483.4(CYP4F22):c.976C>T (p.Arg326Ter) SNV Pathogenic 420584 rs762667660 GRCh37: 19:15654818-15654818
GRCh38: 19:15544007-15544007
37 CYP4F22 NM_173483.4(CYP4F22):c.1084C>T (p.Arg362Ter) SNV Pathogenic 379536 rs745368359 GRCh37: 19:15655038-15655038
GRCh38: 19:15544227-15544227
38 CYP4F22 NM_173483.4(CYP4F22):c.1303C>T (p.His435Tyr) SNV Pathogenic 909 rs118203935 GRCh37: 19:15659981-15659981
GRCh38: 19:15549170-15549170
39 CYP4F22 NM_173483.4(CYP4F22):c.59dup (p.Ile21fs) Duplication Pathogenic 279799 rs531800013 GRCh37: 19:15636205-15636206
GRCh38: 19:15525394-15525395
40 CYP4F22 NM_173483.4(CYP4F22):c.1424G>A (p.Cys475Tyr) SNV Pathogenic 444456 rs1403531884 GRCh37: 19:15662110-15662110
GRCh38: 19:15551299-15551299
41 CYP4F22 NM_173483.4(CYP4F22):c.1064C>T (p.Pro355Leu) SNV Pathogenic 425166 rs760727576 GRCh37: 19:15655018-15655018
GRCh38: 19:15544207-15544207
42 CYP4F22 NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu) SNV Pathogenic/Likely pathogenic 560326 rs118091316 GRCh37: 19:15636324-15636324
GRCh38: 19:15525513-15525513
43 CYP4F22 NM_173483.4(CYP4F22):c.466C>T (p.Arg156Cys) SNV Likely pathogenic 982393 rs770500550 GRCh37: 19:15648390-15648390
GRCh38: 19:15537579-15537579
44 CYP4F22 NM_173483.4(CYP4F22):c.236A>G (p.Glu79Gly) SNV Likely pathogenic 633806 rs1449980834 GRCh37: 19:15640533-15640533
GRCh38: 19:15529722-15529722
45 CYP4F22 NM_173483.4(CYP4F22):c.1219C>T (p.Arg407Cys) SNV Likely pathogenic 633807 rs745942843 GRCh37: 19:15659001-15659001
GRCh38: 19:15548190-15548190
46 CYP4F22 NM_173483.4(CYP4F22):c.712G>A (p.Ala238Thr) SNV Conflicting interpretations of pathogenicity 560335 rs572278771 GRCh37: 19:15651301-15651301
GRCh38: 19:15540490-15540490
47 CYP4F22 NM_173483.4(CYP4F22):c.873C>T (p.Ala291=) SNV Uncertain significance 328439 rs747568295 GRCh37: 19:15651462-15651462
GRCh38: 19:15540651-15540651
48 CYP4F22 NM_173483.4(CYP4F22):c.1137-15C>G SNV Uncertain significance 328445 rs200280289 GRCh37: 19:15658904-15658904
GRCh38: 19:15548093-15548093
49 CYP4F22 NM_173483.4(CYP4F22):c.*650C>T SNV Uncertain significance 328459 rs546418524 GRCh37: 19:15662932-15662932
GRCh38: 19:15552121-15552121
50 CYP4F22 NM_173483.4(CYP4F22):c.1551G>T (p.Glu517Asp) SNV Uncertain significance 328448 rs777194622 GRCh37: 19:15662237-15662237
GRCh38: 19:15551426-15551426
51 CYP4F22 NM_173483.4(CYP4F22):c.*95C>G SNV Uncertain significance 328451 rs148298818 GRCh37: 19:15662377-15662377
GRCh38: 19:15551566-15551566
52 CYP4F22 NM_173483.4(CYP4F22):c.736C>T (p.Arg246Cys) SNV Uncertain significance 328436 rs148977089 GRCh37: 19:15651325-15651325
GRCh38: 19:15540514-15540514
53 CYP4F22 NM_173483.4(CYP4F22):c.*426C>T SNV Uncertain significance 328456 rs534702412 GRCh37: 19:15662708-15662708
GRCh38: 19:15551897-15551897
54 CYP4F22 NM_173483.4(CYP4F22):c.672-9C>T SNV Uncertain significance 328434 rs199834906 GRCh37: 19:15651252-15651252
GRCh38: 19:15540441-15540441
55 CYP4F22 NM_173483.4(CYP4F22):c.850C>T (p.Arg284Trp) SNV Uncertain significance 328437 rs199782025 GRCh37: 19:15651439-15651439
GRCh38: 19:15540628-15540628
56 CYP4F22 NM_173483.4(CYP4F22):c.874G>A (p.Glu292Lys) SNV Uncertain significance 328440 rs139163760 GRCh37: 19:15651463-15651463
GRCh38: 19:15540652-15540652
57 CYP4F22 NM_173483.4(CYP4F22):c.*430C>G SNV Uncertain significance 328457 rs551530110 GRCh37: 19:15662712-15662712
GRCh38: 19:15551901-15551901
58 CYP4F22 NM_173483.4(CYP4F22):c.*812T>G SNV Uncertain significance 328460 rs746243661 GRCh37: 19:15663094-15663094
GRCh38: 19:15552283-15552283
59 CYP4F22 NM_173483.4(CYP4F22):c.1270+5C>T SNV Uncertain significance 328446 rs758198588 GRCh37: 19:15659057-15659057
GRCh38: 19:15548246-15548246
60 CYP4F22 NM_173483.4(CYP4F22):c.160C>T (p.Arg54Cys) SNV Uncertain significance 328424 rs146026019 GRCh37: 19:15636307-15636307
GRCh38: 19:15525496-15525496
61 CYP4F22 NM_173483.4(CYP4F22):c.989A>T (p.Asp330Val) SNV Uncertain significance 328443 rs200174659 GRCh37: 19:15654831-15654831
GRCh38: 19:15544020-15544020
62 CYP4F22 NM_173483.4(CYP4F22):c.1006+13G>A SNV Uncertain significance 328444 rs202078702 GRCh37: 19:15654861-15654861
GRCh38: 19:15544050-15544050
63 CYP4F22 NM_173483.4(CYP4F22):c.-1-1G>A SNV Uncertain significance 632307 rs200464692 GRCh37: 19:15636146-15636146
GRCh38: 19:15525335-15525335
64 CYP4F22 NM_173483.4(CYP4F22):c.659G>C (p.Ser220Thr) SNV Uncertain significance 328432 rs371097842 GRCh37: 19:15648792-15648792
GRCh38: 19:15537981-15537981
65 CYP4F22 NM_173483.4(CYP4F22):c.-123G>A SNV Uncertain significance 328422 rs886054263 GRCh37: 19:15619380-15619380
GRCh38: 19:15508569-15508569
66 CYP4F22 NM_173483.4(CYP4F22):c.862C>A (p.Gln288Lys) SNV Uncertain significance 328438 rs549559441 GRCh37: 19:15651451-15651451
GRCh38: 19:15540640-15540640
67 CYP4F22 NM_173483.4(CYP4F22):c.387T>C (p.Asp129=) SNV Uncertain significance 328428 rs150739429 GRCh37: 19:15648191-15648191
GRCh38: 19:15537380-15537380
68 CYP4F22 NM_173483.4(CYP4F22):c.222+15G>A SNV Uncertain significance 328425 rs374106918 GRCh37: 19:15636384-15636384
GRCh38: 19:15525573-15525573
69 CYP4F22 NM_173483.4(CYP4F22):c.1493T>G (p.Leu498Arg) SNV Uncertain significance 633808 rs1568365210 GRCh37: 19:15662179-15662179
GRCh38: 19:15551368-15551368
70 CYP4F22 NM_173483.4(CYP4F22):c.550-11_550-4delinsGGTGACATCTGG Indel Uncertain significance 633809 rs1568360470 GRCh37: 19:15648672-15648679
GRCh38: 19:15537861-15537868
71 CYP4F22 NM_173483.4(CYP4F22):c.350C>T (p.Pro117Leu) SNV Uncertain significance 890420 GRCh37: 19:15640647-15640647
GRCh38: 19:15529836-15529836
72 CYP4F22 NM_173483.4(CYP4F22):c.1418+8C>T SNV Uncertain significance 890496 GRCh37: 19:15661575-15661575
GRCh38: 19:15550764-15550764
73 CYP4F22 NM_173483.4(CYP4F22):c.*15C>T SNV Uncertain significance 890497 GRCh37: 19:15662297-15662297
GRCh38: 19:15551486-15551486
74 CYP4F22 NM_173483.4(CYP4F22):c.*45C>T SNV Uncertain significance 890498 GRCh37: 19:15662327-15662327
GRCh38: 19:15551516-15551516
75 CYP4F22 NM_173483.4(CYP4F22):c.460C>T (p.Arg154Trp) SNV Uncertain significance 890990 GRCh37: 19:15648384-15648384
GRCh38: 19:15537573-15537573
76 CYP4F22 NM_173483.4(CYP4F22):c.485C>G (p.Ala162Gly) SNV Uncertain significance 890991 GRCh37: 19:15648409-15648409
GRCh38: 19:15537598-15537598
77 CYP4F22 NM_173483.4(CYP4F22):c.595A>G (p.Met199Val) SNV Uncertain significance 890992 GRCh37: 19:15648728-15648728
GRCh38: 19:15537917-15537917
78 CYP4F22 NM_173483.4(CYP4F22):c.*150T>C SNV Uncertain significance 891056 GRCh37: 19:15662432-15662432
GRCh38: 19:15551621-15551621
79 CYP4F22 NM_173483.4(CYP4F22):c.*187C>T SNV Uncertain significance 891057 GRCh37: 19:15662469-15662469
GRCh38: 19:15551658-15551658
80 CYP4F22 NM_173483.4(CYP4F22):c.748T>C (p.Tyr250His) SNV Uncertain significance 892215 GRCh37: 19:15651337-15651337
GRCh38: 19:15540526-15540526
81 CYP4F22 NM_173483.4(CYP4F22):c.753C>T (p.Leu251=) SNV Uncertain significance 892216 GRCh37: 19:15651342-15651342
GRCh38: 19:15540531-15540531
82 CYP4F22 NM_173483.4(CYP4F22):c.776C>G (p.Ala259Gly) SNV Uncertain significance 723412 rs188702643 GRCh37: 19:15651365-15651365
GRCh38: 19:15540554-15540554
83 CYP4F22 NM_173483.4(CYP4F22):c.784C>T (p.Arg262Trp) SNV Uncertain significance 892217 GRCh37: 19:15651373-15651373
GRCh38: 19:15540562-15540562
84 CYP4F22 NM_173483.4(CYP4F22):c.*314G>A SNV Uncertain significance 892274 GRCh37: 19:15662596-15662596
GRCh38: 19:15551785-15551785
85 CYP4F22 NM_173483.4(CYP4F22):c.*422A>C SNV Uncertain significance 892275 GRCh37: 19:15662704-15662704
GRCh38: 19:15551893-15551893
86 CYP4F22 NM_173483.4(CYP4F22):c.*427C>G SNV Uncertain significance 892276 GRCh37: 19:15662709-15662709
GRCh38: 19:15551898-15551898
87 CYP4F22 NM_173483.4(CYP4F22):c.*429C>G SNV Uncertain significance 892277 GRCh37: 19:15662711-15662711
GRCh38: 19:15551900-15551900
88 CYP4F22 NM_173483.4(CYP4F22):c.*432A>C SNV Uncertain significance 892278 GRCh37: 19:15662714-15662714
GRCh38: 19:15551903-15551903
89 CYP4F22 NM_173483.4(CYP4F22):c.*612C>A SNV Uncertain significance 888876 GRCh37: 19:15662894-15662894
GRCh38: 19:15552083-15552083
90 CYP4F22 NM_173483.4(CYP4F22):c.89T>C (p.Phe30Ser) SNV Uncertain significance 890419 GRCh37: 19:15636236-15636236
GRCh38: 19:15525425-15525425
91 CYP4F22 NM_173483.4(CYP4F22):c.20G>A (p.Arg7His) SNV Uncertain significance 510003 rs202066269 GRCh37: 19:15636167-15636167
GRCh38: 19:15525356-15525356
92 CYP4F22 NM_173483.4(CYP4F22):c.667C>T (p.Gln223Ter) SNV Uncertain significance 328433 rs199892192 GRCh37: 19:15648800-15648800
GRCh38: 19:15537989-15537989
93 CYP4F22 NM_173483.4(CYP4F22):c.461G>A (p.Arg154Gln) SNV Uncertain significance 328430 rs779288178 GRCh37: 19:15648385-15648385
GRCh38: 19:15537574-15537574
94 CYP4F22 NM_173483.4(CYP4F22):c.470G>A (p.Arg157His) SNV Uncertain significance 1030320 GRCh37: 19:15648394-15648394
GRCh38: 19:15537583-15537583
95 CYP4F22 NM_173483.4(CYP4F22):c.844C>T (p.Arg282Trp) SNV Uncertain significance 560334 rs767352854 GRCh37: 19:15651433-15651433
GRCh38: 19:15540622-15540622
96 CYP4F22 NM_173483.4(CYP4F22):c.177C>T (p.Phe59=) SNV Likely benign 719452 rs118091316 GRCh37: 19:15636324-15636324
GRCh38: 19:15525513-15525513
97 CYP4F22 NM_173483.4(CYP4F22):c.*26G>A SNV Likely benign 328449 rs146912509 GRCh37: 19:15662308-15662308
GRCh38: 19:15551497-15551497
98 CYP4F22 NM_173483.4(CYP4F22):c.785G>A (p.Arg262Gln) SNV Likely benign 888789 GRCh37: 19:15651374-15651374
GRCh38: 19:15540563-15540563
99 CYP4F22 NM_173483.4(CYP4F22):c.693C>T (p.Ser231=) SNV Likely benign 328435 rs149616338 GRCh37: 19:15651282-15651282
GRCh38: 19:15540471-15540471
100 CYP4F22 NM_173483.4(CYP4F22):c.51G>A (p.Thr17=) SNV Likely benign 328423 rs147808045 GRCh37: 19:15636198-15636198
GRCh38: 19:15525387-15525387
101 CYP4F22 NM_173483.4(CYP4F22):c.*191G>T SNV Likely benign 328453 rs150837991 GRCh37: 19:15662473-15662473
GRCh38: 19:15551662-15551662
102 CYP4F22 NM_173483.4(CYP4F22):c.367+5G>A SNV Benign 328426 rs73512652 GRCh37: 19:15640669-15640669
GRCh38: 19:15529858-15529858
103 CYP4F22 NM_173483.4(CYP4F22):c.447T>C (p.Gly149=) SNV Benign 328429 rs114980833 GRCh37: 19:15648371-15648371
GRCh38: 19:15537560-15537560
104 CYP4F22 NM_173483.4(CYP4F22):c.*262C>A SNV Benign 328454 rs2280435 GRCh37: 19:15662544-15662544
GRCh38: 19:15551733-15551733
105 CYP4F22 NM_173483.4(CYP4F22):c.368-9C>G SNV Benign 328427 rs76015551 GRCh37: 19:15648163-15648163
GRCh38: 19:15537352-15537352
106 CYP4F22 NM_173483.4(CYP4F22):c.*183T>G SNV Benign 328452 rs2280436 GRCh37: 19:15662465-15662465
GRCh38: 19:15551654-15551654
107 CYP4F22 NM_173483.4(CYP4F22):c.*450C>A SNV Benign 328458 rs2280434 GRCh37: 19:15662732-15662732
GRCh38: 19:15551921-15551921
108 CYP4F22 NM_173483.4(CYP4F22):c.1513A>C (p.Lys505Gln) SNV Benign 328447 rs7256787 GRCh37: 19:15662199-15662199
GRCh38: 19:15551388-15551388
109 CYP4F22 NM_173483.4(CYP4F22):c.*90C>A SNV Benign 328450 rs76748339 GRCh37: 19:15662372-15662372
GRCh38: 19:15551561-15551561
110 CYP4F22 NM_173483.4(CYP4F22):c.532A>T (p.Ser178Cys) SNV Benign 328431 rs16980531 GRCh37: 19:15648456-15648456
GRCh38: 19:15537645-15537645
111 CYP4F22 NM_173483.4(CYP4F22):c.582G>A (p.Ala194=) SNV Benign 262835 rs11666601 GRCh37: 19:15648715-15648715
GRCh38: 19:15537904-15537904
112 CYP4F22 NM_173483.4(CYP4F22):c.587C>G (p.Ser196Cys) SNV Benign 786352 rs79603814 GRCh37: 19:15648720-15648720
GRCh38: 19:15537909-15537909

Expression for Ichthyosis Lamellar 3

Search GEO for disease gene expression data for Ichthyosis Lamellar 3.

Pathways for Ichthyosis Lamellar 3

GO Terms for Ichthyosis Lamellar 3

Sources for Ichthyosis Lamellar 3

3 CDC
7 CNVD
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10 dbSNP
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17 EFO
18 ExPASy
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57 OMIM® (Updated 05-Apr-2021)
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