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Variant : CV444930 (NM_001987.4(ETV6):c.1052A>G (p.Asp351Gly)) Homo sapiens

Symbol: CV444930
Name: NM_001987.4(ETV6):c.1052A>G (p.Asp351Gly)
Condition: not specified [RCV000522347]
Clinical Significance: uncertain significance
Last Evaluated: 08/03/2017
Review Status: criteria provided, single submitter
Related Genes: ETV6  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_609t1:c.1052A>G
NC_000012.12:g.11884487A>G
NC_000012.11:g.12037421A>G
NM_001987.4:c.1052A>G
LRG_609:g.239634A>G
NG_011443.1:g.239634A>G
LRG_609p1:p.Asp351Gly
NP_001978.1:p.Asp351Gly
NM_001987.4:c.1052A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381211,884,487 - 11,884,487CLINVAR
GRCh371212,037,421 - 12,037,421CLINVAR
Cytogenetic Map1212p13.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13484488
Created: 2018-01-09
Species: Homo sapiens
Last Modified: 2019-11-05
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.