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Variant : CV346392 (NM_001139.3(ALOX12B):c.-157C>T) Homo sapiens

Symbol: CV346392
Name: NM_001139.3(ALOX12B):c.-157C>T
Condition: Congenital ichthyosiform erythroderma [RCV000378887]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: ALOX12B  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.8087599G>A
NC_000017.10:g.7990917G>A
NG_007099.2:g.5118C>T
NM_001139.2:c.-157C>T
NM_001139.3:c.-157C>T
LRG_1264t1:c.-157C>T
LRG_1264:g.5118C>T
NG_007099.1:g.5105C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,087,599 - 8,087,599CLINVAR
GRCh37177,990,917 - 7,990,917CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: Congenital ichthyosis



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11661688
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.