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Variant : CV340757 (NM_001139.3(ALOX12B):c.1541C>T (p.Thr514Met)) Homo sapiens

Symbol: CV340757
Name: NM_001139.3(ALOX12B):c.1541C>T (p.Thr514Met)
Condition: Congenital ichthyosiform erythroderma [RCV000382037]
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): NC_000017.11:g.8075708G>A
NC_000017.10:g.7979026G>A
NP_001130.1:p.Thr514Met
NM_001139.3:c.1541C>T
NG_007099.2:g.17009C>T
NM_001139.2:c.1541C>T
LRG_1264t1:c.1541C>T
LRG_1264:g.17009C>T
LRG_1264p1:p.Thr514Met
NG_007099.1:g.16996C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,075,708 - 8,075,708CLINVAR
GRCh37177,979,026 - 7,979,026CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: Congenital ichthyosis



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11624135
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-10-06
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.