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Variant : CV102539 (NM_198270.4(NHS):c.953G>A (p.Trp318Ter)) Homo sapiens

Symbol: CV102539
Name: NM_198270.4(NHS):c.953G>A (p.Trp318Ter)
Condition: not provided [RCV000082808]
Clinical Significance: pathogenic
Last Evaluated: 07/12/2013
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: stop-gain|nonsense
Evidence: clinical testing
HGVS Name(s): NM_001291868.2:c.422G>A
NC_000023.11:g.17721541G>A
NC_000023.10:g.17739661G>A
NM_198270.2:c.953G>A
NP_938011.1:p.Trp318*
NP_938011.1:p.Trp318Ter
NG_011553.2:g.351122G>A
NM_001291867.2:c.1016G>A
NM_001136024.4:c.485G>A
NM_198270.4:c.953G>A
NP_001278797.1:p.Trp141Ter
NP_001129496.1:p.Trp162Ter
NP_001278796.1:p.Trp339Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,721,541 - 17,721,541CLINVAR
GRCh37X17,739,661 - 17,739,661CLINVAR
Cytogenetic MapXXp22.13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8643556
Created: 2014-05-13
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.