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Variant : CV102534 (NM_198270.4(NHS):c.400del (p.Arg134fs)) Homo sapiens

Symbol: CV102534
Name: NM_198270.4(NHS):c.400del (p.Arg134fs)
Condition: not provided [RCV000082803]
Clinical Significance: pathogenic
Last Evaluated: 09/26/2013
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: NHS  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.17376157del
NC_000023.10:g.17394280del
NP_001278796.1:p.Arg134fs
NP_938011.1:p.Arg134fs
NM_198270.2:c.400delC
NM_001291867.2:c.400del
NM_198270.4:c.400del
NG_011553.2:g.5738del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,376,157 - 17,376,157CLINVAR
GRCh37X17,394,280 - 17,394,280CLINVAR
Cytogenetic MapXXp22.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8643551
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.