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Variant : CV48144 (NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp)) Homo sapiens

Symbol: CV48144
Name: NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp)
Condition: Autosomal recessive congenital ichthyosis 2 [RCV000032743]|Congenital ichthyosiform erythroderma [RCV000626762]|not provided [RCV000414417]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 07/05/2018
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|missense variant
Evidence: clinical testing|literature only
HGVS Name(s): NC_000017.11:g.8075607G>A
NC_000017.10:g.7978925G>A
NP_001130.1:p.Arg548Trp
NM_001139.3:c.1642C>T
NG_007099.2:g.17110C>T
NM_001139.2:c.1642C>T
LRG_1264:g.17110C>T
LRG_1264p1:p.Arg548Trp
LRG_1264t1:c.1642C>T
NG_007099.1:g.17097C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,075,607 - 8,075,607CLINVAR
GRCh37177,978,925 - 7,978,925CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: Collodion baby; Congenital ichthyosis; Congenital lamellar ichthyosis; Congenital non-bullous ichthyosis; Congenital nonbullous ichthyosiform erythroderma; Ichthyosiform erythroderma, Brocq congenital, nonbullous form; Ichthyosiform erythroderma, nonbullous congenital; Ichthyosis lammellaris; Ichthyosis, congenital, nonblistering; 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: 8604282
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-10-15
Status: ACTIVE



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