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Variant : CV177870 (NM_198270.4(NHS):c.1080C>T (p.Cys360=)) Homo sapiens

Symbol: CV177870
Name: NM_198270.4(NHS):c.1080C>T (p.Cys360=)
Condition: not specified [RCV000153567]
Clinical Significance: uncertain significance
Last Evaluated: 11/27/2013
Review Status: classified by single submitter|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_198270.4:c.1080C>T
NM_001291867.2:c.1143C>T
NM_001291868.2:c.549C>T
NM_001136024.4:c.612C>T
NP_001278797.1:p.Cys183=
NP_001129496.1:p.Cys204=
NP_001278796.1:p.Cys381=
NG_011553.2:g.353914C>T
NC_000023.11:g.17724333C>T
NC_000023.10:g.17742453C>T
NP_938011.1:p.(=)
NP_938011.1:p.Cys360=
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,724,333 - 17,724,333CLINVAR
GRCh37X17,742,453 - 17,742,453CLINVAR
Cytogenetic MapXXp22.13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9693118
Created: 2015-02-10
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.