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Variant : CV622253 (NM_001165960.1(ALOXE3):c.2461C>T (p.Arg821Trp)) Homo sapiens

Symbol: CV622253
Name: NM_001165960.1(ALOXE3):c.2461C>T (p.Arg821Trp)
Condition: Autosomal recessive congenital ichthyosis 2 [RCV000782398]
Clinical Significance: likely pathogenic
Last Evaluated: 06/08/2018
Review Status: criteria provided, single submitter
Related Genes: ALOXE3  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_015807.1:g.27219C>T
NC_000017.11:g.8096698G>A
NC_000017.10:g.8000016G>A
NM_021628.2:c.2065C>T
NM_001165960.1:c.2461C>T
NP_067641.2:p.Arg689Trp
NP_001159432.1:p.Arg821Trp
NM_001369446.1:c.2062C>T
NP_001356375.1:p.Arg688Trp
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,096,698 - 8,096,698CLINVAR
GRCh37178,000,016 - 8,000,016CLINVAR
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: 14696262
Created: 2019-07-09
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.