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Variant : CV622254 (NM_001165960.1(ALOXE3):c.1604A>G (p.His535Arg)) Homo sapiens

Symbol: CV622254
Name: NM_001165960.1(ALOXE3):c.1604A>G (p.His535Arg)
Condition: Autosomal recessive congenital ichthyosis 2 [RCV000782397]
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): NP_001159432.1:p.His535Arg
NM_021628.2:c.1208A>G
NC_000017.10:g.8013507T>C
NM_001165960.1:c.1604A>G
NG_015807.1:g.13728A>G
NC_000017.11:g.8110189T>C
NP_067641.2:p.His403Arg
NM_001369446.1:c.1205A>G
NP_001356375.1:p.His402Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,110,189 - 8,110,189CLINVAR
GRCh37178,013,507 - 8,013,507CLINVAR
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: 14696261
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.