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Variant : CV195451 (NM_198270.4(NHS):c.2171C>T (p.Ala724Val)) Homo sapiens

Symbol: CV195451
Name: NM_198270.4(NHS):c.2171C>T (p.Ala724Val)
Condition: not specified [RCV000179567]
Clinical Significance: uncertain significance
Last Evaluated: 02/10/2015
Review Status: criteria provided, single submitter
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001291868.2:c.1640C>T
NM_001136024.4:c.1703C>T
NM_198270.4:c.2171C>T
NM_001291867.2:c.2234C>T
NP_001278797.1:p.Ala547Val
NP_001129496.1:p.Ala568Val
NP_001278796.1:p.Ala745Val
NG_011553.2:g.355921C>T
NC_000023.11:g.17726340C>T
NC_000023.10:g.17744460C>T
NP_938011.1:p.Ala724Val
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,726,340 - 17,726,340CLINVAR
GRCh37X17,744,460 - 17,744,460CLINVAR
Cytogenetic MapXXp22.13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10052870
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.