Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV267796 (NM_198270.4(NHS):c.827A>G (p.Glu276Gly)) Homo sapiens

Symbol: CV267796
Name: NM_198270.4(NHS):c.827A>G (p.Glu276Gly)
Condition: not specified [RCV000384436]
Clinical Significance: uncertain significance
Last Evaluated: 09/25/2015
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): NG_011553.2:g.322024A>G
NC_000023.11:g.17692443A>G
NC_000023.10:g.17710563A>G
NP_938011.1:p.Glu276Gly
NM_001136024.4:c.296A>G
NM_001291868.2:c.296A>G
NM_001291867.2:c.827A>G
NP_001278796.1:p.Glu276Gly
NP_001129496.1:p.Glu99Gly
NP_001278797.1:p.Glu99Gly
NM_198270.4:c.827A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,692,443 - 17,692,443CLINVAR
GRCh37X17,710,563 - 17,710,563CLINVAR
Cytogenetic MapXXp22.13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11642918
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.