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Variant : CV177871 (NM_198270.4(NHS):c.1092T>C (p.His364=)) Homo sapiens

Symbol: CV177871
Name: NM_198270.4(NHS):c.1092T>C (p.His364=)
Condition: not specified [RCV000153568]
Clinical Significance: uncertain significance
Last Evaluated: 03/24/2014
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): NG_011553.2:g.353926T>C
NC_000023.11:g.17724345T>C
NC_000023.10:g.17742465T>C
NP_938011.1:p.(=)
NP_938011.1:p.His364=
NP_001278796.1:p.His385=
NM_198270.4:c.1092T>C
NM_001291867.2:c.1155T>C
NM_001291868.2:c.561T>C
NM_001136024.4:c.624T>C
NP_001278797.1:p.His187=
NP_001129496.1:p.His208=
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,724,345 - 17,724,345CLINVAR
GRCh37X17,742,465 - 17,742,465CLINVAR
Cytogenetic MapXXp22.13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9693119
Created: 2015-02-10
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.