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Variant : CV430749 (NM_198270.4(NHS):c.503A>G (p.Gln168Arg)) Homo sapiens

Symbol: CV430749
Name: NM_198270.4(NHS):c.503A>G (p.Gln168Arg)
Condition: not specified [RCV000500241]
Clinical Significance: uncertain significance
Last Evaluated: 03/25/2016
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_198270.3:c.503A>G
NG_011553.2:g.5841A>G
NC_000023.11:g.17376260A>G
NC_000023.10:g.17394383A>G
NP_938011.1:p.Gln168Arg
NM_001291867.2:c.503A>G
NM_198270.4:c.503A>G
NP_001278796.1:p.Gln168Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,376,260 - 17,376,260CLINVAR
GRCh37X17,394,383 - 17,394,383CLINVAR
Cytogenetic MapXXp22.2CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13213709
Created: 2017-09-12
Species: Homo sapiens
Last Modified: 2019-09-06
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.