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Variant : CV347764 (NM_001165960.1(ALOXE3):c.1701+15del) Homo sapiens

Symbol: CV347764
Name: NM_001165960.1(ALOXE3):c.1701+15del
Condition: Congenital ichthyosiform erythroderma [RCV000328666]
Clinical Significance: benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: ALOXE3  
Variant Type: deletion (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_021628.2:c.1305+15delG
NM_001165960.1:c.1701+15del
NG_015807.1:g.13840del
NM_001369446.1:c.1302+15del
NM_021628.2:c.1305+15del
NC_000017.11:g.8110079del
NC_000017.10:g.8013397del
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,110,077 - 8,110,077CLINVAR
GRCh37178,013,395 - 8,013,395CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: Congenital ichthyosis



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11629627
Created: 2017-01-11
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.