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Variant : CV426440 (NM_198270.4(NHS):c.553C>T (p.Gln185Ter)) Homo sapiens

Symbol: CV426440
Name: NM_198270.4(NHS):c.553C>T (p.Gln185Ter)
Condition: not provided [RCV000498807]
Clinical Significance: pathogenic
Last Evaluated: 06/08/2017
Review Status: criteria provided, single submitter
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NG_011553.2:g.5891C>T
NC_000023.11:g.17376310C>T
NC_000023.10:g.17394433C>T
NM_198270.2:c.553C>T
NP_938011.1:p.Gln185Ter
NM_001291867.2:c.553C>T
NM_198270.4:c.553C>T
NP_001278796.1:p.Gln185Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,376,310 - 17,376,310CLINVAR
GRCh37X17,394,433 - 17,394,433CLINVAR
Cytogenetic MapXXp22.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13212427
Created: 2017-09-12
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.