Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV48145 (NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys)) Homo sapiens

Symbol: CV48145
Name: NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys)
Condition: Autosomal recessive congenital ichthyosis 2 [RCV000032744]|Ectropion [RCV001196298]|Ichthyosis (disease) [RCV000414880]|not provided [RCV000413764]
Clinical Significance: pathogenic
Last Evaluated: 10/01/2018
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: ALOX12B  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|literature only
HGVS Name(s): NC_000017.11:g.8075687T>C
NC_000017.10:g.7979005T>C
NP_001130.1:p.Tyr521Cys
NG_007099.1:g.17017A>G
O75342:p.Tyr521Cys
NM_001139.3:c.1562A>G
NG_007099.2:g.17030A>G
NM_001139.2:c.1562A>G
LRG_1264:g.17030A>G
LRG_1264p1:p.Tyr521Cys
LRG_1264t1:c.1562A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,075,687 - 8,075,687CLINVAR
GRCh37177,979,005 - 7,979,005CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: Collodion baby; Congenital lamellar ichthyosis; Congenital non-bullous ichthyosis; Congenital nonbullous ichthyosiform erythroderma; Everted eyelid; Eyelid folded out; Eyelid turned out; Generalized ichthyosis; Hypertrophic ichthyosis; Ichthyosiform abnormality of the skin; Ichthyosiform erythroderma, Brocq congenital, nonbullous form; Ichthyosiform erythroderma, nonbullous congenital; Ichthyosis; Ichthyosis lammellaris; Ichthyosis, congenital, nonblistering; Ichthyotic skin; Nonbullous congenital ichthyosiform erythroderma 1; Nonbullous congenital ichthyosis
Age Of Onset: neonatal/infancy



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8604283
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-10-15
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.