Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV340769 (NM_001139.3(ALOX12B):c.1004A>G (p.His335Arg)) Homo sapiens

Symbol: CV340769
Name: NM_001139.3(ALOX12B):c.1004A>G (p.His335Arg)
Condition: Congenital ichthyosiform erythroderma [RCV000390018]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: ALOX12B  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_1264:g.13254A>G
NC_000017.11:g.8079463T>C
NC_000017.10:g.7982781T>C
NP_001130.1:p.His335Arg
NM_001139.3:c.1004A>G
NG_007099.2:g.13254A>G
NM_001139.2:c.1004A>G
LRG_1264t1:c.1004A>G
LRG_1264p1:p.His335Arg
NG_007099.1:g.13241A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,079,463 - 8,079,463CLINVAR
GRCh37177,982,781 - 7,982,781CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: Congenital ichthyosis



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11662868
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-10-15
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.