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Variant : CV102536 (NM_198270.4(NHS):c.513C>T (p.Leu171=)) Homo sapiens

Symbol: CV102536
Name: NM_198270.4(NHS):c.513C>T (p.Leu171=)
Condition: not provided [RCV000723670]|not specified [RCV000082805]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 03/04/2016
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, single submitter
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_001291867.2:c.513C>T
NM_198270.4:c.513C>T
NM_198270.3:c.513C>T
NP_938011.1:p.(=)
NP_938011.1:p.(=)
NP_001278796.1:p.Leu171=
NC_000023.11:g.17376270C>T
NC_000023.10:g.17394393C>T
NM_198270.2:c.513C>T
NP_938011.1:p.(=)
NP_938011.1:p.Leu171=
NG_011553.2:g.5851C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,376,270 - 17,376,270CLINVAR
GRCh37X17,394,393 - 17,394,393CLINVAR
Cytogenetic MapXXp22.2CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8643553
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.