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Variant : CV21835 (NM_002791.3(PSMA6):c.-8C>G) Homo sapiens

Symbol: CV21835
Name: NM_002791.3(PSMA6):c.-8C>G
Condition: Myocardial infarction [RCV000007198]
Clinical Significance: risk factor
Last Evaluated: 11/02/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: PSMA6  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant|intron variant|utr-5
Nucleotide Change: -8c-g, 5-prime utr (rs1048990)
Evidence: literature only
HGVS Name(s): NG_011703.2:g.18912C>G
NC_000014.9:g.35292469C>G
NC_000014.8:g.35761675C>G
NM_002791.1:c.-8C>G
NM_001282234.1:c.19+13751C>G
NR_104110.1:n.153C>G
NM_001282233.1:c.-150C>G
NM_001282232.1:c.-293C>G
NM_002791.3:c.-8C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381435,292,469 - 35,292,469CLINVAR
GRCh371435,761,675 - 35,761,675CLINVAR
Cytogenetic Map1414q13.2CLINVAR
Trait Synonyms: Heart attack; MI; Myocardial infarction, susceptibility to



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8597263
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-08-04
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.