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Variant : CV347722 (NM_001139.3(ALOX12B):c.*118dup) Homo sapiens

Symbol: CV347722
Name: NM_001139.3(ALOX12B):c.*118dup
Condition: Congenital ichthyosiform erythroderma [RCV000369002]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: ALOX12B  
Variant Type: duplication (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_001139.2:c.*118dupA
NM_001139.3:c.*118dup
NG_007099.2:g.20064dup
LRG_1264t1:c.*118dup
LRG_1264:g.20064dup
NG_007099.1:g.20051dup
NC_000017.11:g.8072659dup
NC_000017.10:g.7975977dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,072,652 - 8,072,653CLINVAR
GRCh37177,975,970 - 7,975,971CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: Congenital ichthyosis



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11635600
Created: 2017-01-11
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.