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Variant : CV213955 (NM_001165960.1(ALOXE3):c.814C>T (p.Arg272Ter)) Homo sapiens

Symbol: CV213955
Name: NM_001165960.1(ALOXE3):c.814C>T (p.Arg272Ter)
Condition: Autosomal recessive congenital ichthyosis 3 [RCV000201260]|Ichthyosis (disease) [RCV000755138]
Clinical Significance: pathogenic
Last Evaluated: 11/17/2015
Review Status: no assertion criteria provided
Related Genes: ALOXE3  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: research
HGVS Name(s): NM_021628.2:c.418C>T
NM_001165960.1:c.814C>T
NG_015807.1:g.8294C>T
NC_000017.11:g.8115623G>A
NC_000017.10:g.8018941G>A
NP_067641.2:p.Arg140Ter
NP_001159432.1:p.Arg272Ter
NP_001356375.1:p.Arg140Ter
NM_001369446.1:c.418C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,115,623 - 8,115,623CLINVAR
GRCh37178,018,941 - 8,018,941CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: Hypertrophic ichthyosis; Ichthyosiform abnormality of the skin; Ichthyosis; ICHTHYOSIS, LAMELLAR, 5; Ichthyotic skin
Age Of Onset: neonatal



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10407770
Created: 2015-11-10
Species: Homo sapiens
Last Modified: 2020-10-20
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.