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Variant : CV135218 (NM_198270.4(NHS):c.1984G>A (p.Val662Met)) Homo sapiens

Symbol: CV135218
Name: NM_198270.4(NHS):c.1984G>A (p.Val662Met)
Condition: not provided [RCV000117787]
Clinical Significance: uncertain significance
Last Evaluated: 12/11/2013
Review Status: classified by single submitter|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.1453G>A
NM_001291867.2:c.2047G>A
NP_001278797.1:p.Val485Met
NP_001129496.1:p.Val506Met
NP_001278796.1:p.Val683Met
NM_001136024.4:c.1516G>A
NM_198270.4:c.1984G>A
NC_000023.11:g.17726153G>A
NC_000023.10:g.17744273G>A
NM_198270.2:c.1984G>A
NP_938011.1:p.Val662Met
NG_011553.2:g.355734G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,726,153 - 17,726,153CLINVAR
GRCh37X17,744,273 - 17,744,273CLINVAR
Cytogenetic MapXXp22.13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8660203
Created: 2014-06-10
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.