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Variant : CV265736 (NM_001497.3(B4GALT1):c.867C>G (p.Val289=)) Homo sapiens

Symbol: CV265736
Name: NM_001497.3(B4GALT1):c.867C>G (p.Val289=)
Condition: not specified [RCV000273704]
Clinical Significance: uncertain significance
Last Evaluated: 06/16/2015
Review Status: criteria provided, single submitter
Related Genes: B4GALT1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_001497.3:c.867C>G
NG_008919.1:g.56276C>G
NC_000009.12:g.33116083G>C
NC_000009.11:g.33116081G>C
NP_001488.2:p.Val289=
Position
Human AssemblyChrPosition (strand)Source
GRCh38933,116,083 - 33,116,083CLINVAR
GRCh37933,116,081 - 33,116,081CLINVAR
Cytogenetic Map99p21.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11636797
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-12-03
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.