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Variant : CV361028 (NM_001139.3(ALOX12B):c.1859C>A (p.Pro620Gln)) Homo sapiens

Symbol: CV361028
Name: NM_001139.3(ALOX12B):c.1859C>A (p.Pro620Gln)
Condition: Ichthyosis (disease) [RCV000414766]
Clinical Significance: pathogenic
Last Evaluated: 06/22/2015
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): NC_000017.11:g.8073215G>T
NC_000017.10:g.7976533G>T
NP_001130.1:p.Pro620Gln
NG_007099.1:g.19489C>A
NM_001139.3:c.1859C>A
NG_007099.2:g.19502C>A
NM_001139.2:c.1859C>A
LRG_1264t1:c.1859C>A
LRG_1264:g.19502C>A
LRG_1264p1:p.Pro620Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,073,215 - 8,073,215CLINVAR
GRCh37177,976,533 - 7,976,533CLINVAR
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: 12738980
Created: 2017-02-07
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.