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Variant : CV340761 (NM_001139.3(ALOX12B):c.1276-13G>C) Homo sapiens

Symbol: CV340761
Name: NM_001139.3(ALOX12B):c.1276-13G>C
Condition: Congenital ichthyosiform erythroderma [RCV000348699]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: ALOX12B  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.8076756C>G
NC_000017.10:g.7980074C>G
NM_001139.2:c.1276-13G>C
NG_007099.2:g.15961G>C
NM_001139.3:c.1276-13G>C
LRG_1264:g.15961G>C
LRG_1264t1:c.1276-13G>C
NG_007099.1:g.15948G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,076,756 - 8,076,756CLINVAR
GRCh37177,980,074 - 7,980,074CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: Congenital ichthyosis



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11621466
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.