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Variant : CV622256 (NM_001165960.1(ALOXE3):c.702T>A (p.Tyr234Ter)) Homo sapiens

Symbol: CV622256
Name: NM_001165960.1(ALOXE3):c.702T>A (p.Tyr234Ter)
Condition: Autosomal recessive congenital ichthyosis 2 [RCV000782395]
Clinical Significance: pathogenic
Last Evaluated: 06/08/2018
Review Status: criteria provided, single submitter
Related Genes: ALOXE3  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NM_021628.2:c.306T>A
NM_001165960.1:c.702T>A
NP_067641.2:p.Tyr102Ter
NP_001159432.1:p.Tyr234Ter
NG_015807.1:g.7095T>A
NC_000017.11:g.8116822A>T
NC_000017.10:g.8020140A>T
NM_001369446.1:c.306T>A
NP_001356375.1:p.Tyr102Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,116,822 - 8,116,822CLINVAR
GRCh37178,020,140 - 8,020,140CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: COLLODION BABY, SELF-HEALING; Ichthyosiform erythroderma, Brocq congenital, nonbullous form; Ichthyosiform erythroderma, nonbullous congenital; Nonbullous congenital ichthyosiform erythroderma 1



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14696259
Created: 2019-07-09
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.