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Variant : CV190678 (NM_198270.4(NHS):c.147C>T (p.Val49=)) Homo sapiens

Symbol: CV190678
Name: NM_198270.4(NHS):c.147C>T (p.Val49=)
Condition: not specified [RCV000173589]
Clinical Significance: uncertain significance
Last Evaluated: 06/01/2015
Review Status: criteria provided, single submitter
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_198270.4:c.147C>T
NP_001278796.1:p.Val49=
NM_001291867.2:c.147C>T
NG_011553.2:g.5485C>T
NC_000023.11:g.17375904C>T
NC_000023.10:g.17394027C>T
NP_938011.1:p.Val49=
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,375,904 - 17,375,904CLINVAR
GRCh37X17,394,027 - 17,394,027CLINVAR
Cytogenetic MapXXp22.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10049615
Created: 2015-07-14
Species: Homo sapiens
Last Modified: 2019-09-10
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.