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Variant : CV919782 (NM_001139.3(ALOX12B):c.944T>C (p.Leu315Pro)) Homo sapiens

Symbol: CV919782
Name: NM_001139.3(ALOX12B):c.944T>C (p.Leu315Pro)
Condition: Ichthyosis (disease) [RCV001197085]
Clinical Significance: likely pathogenic
Last Evaluated: 01/01/2016
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_1264t1:c.944T>C
NM_001139.3:c.944T>C
LRG_1264:g.13194T>C
NG_007099.1:g.13181T>C
NG_007099.2:g.13194T>C
NC_000017.11:g.8079523A>G
NC_000017.10:g.7982841A>G
NM_001139.2:c.944T>C
LRG_1264p1:p.Leu315Pro
NP_001130.1:p.Leu315Pro
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,079,523 - 8,079,523CLINVAR
GRCh37177,982,841 - 7,982,841CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: Hypertrophic ichthyosis; Ichthyosiform abnormality of the skin; Ichthyosis; Ichthyotic skin



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 38460958
Created: 2020-08-11
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.