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Variant : CV102530 (NM_198270.4(NHS):c.2285G>A (p.Gly762Glu)) Homo sapiens

Symbol: CV102530
Name: NM_198270.4(NHS):c.2285G>A (p.Gly762Glu)
Condition: not specified [RCV000082799]
Clinical Significance: uncertain significance
Last Evaluated: 10/16/2014
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing
HGVS Name(s): NM_001291868.2:c.1754G>A
NM_001136024.4:c.1817G>A
NM_198270.4:c.2285G>A
NM_001291867.2:c.2348G>A
NP_001278797.1:p.Gly585Glu
NP_001129496.1:p.Gly606Glu
NP_938011.1:p.Gly762Glu
NP_001278796.1:p.Gly783Glu
NC_000023.11:g.17726454G>A
NC_000023.10:g.17744574G>A
NM_198270.2:c.2285G>A
NP_938011.1:p.Gly762Glu
NG_011553.2:g.356035G>A
NG_011553.1:g.356032G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,726,454 - 17,726,454CLINVAR
GRCh37X17,744,574 - 17,744,574CLINVAR
Cytogenetic MapXXp22.13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8643547
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.