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Variant : CV492145 (NM_198270.4(NHS):c.1935G>A (p.Glu645=)) Homo sapiens

Symbol: CV492145
Name: NM_198270.4(NHS):c.1935G>A (p.Glu645=)
Condition: not specified [RCV000596024]
Clinical Significance: uncertain significance
Last Evaluated: 03/10/2017
Review Status: 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): NC_000023.11:g.17726104G>A
NG_011553.2:g.355685G>A
NP_938011.1:p.Glu645=
NC_000023.10:g.17744224G>A
NM_001291868.2:c.1404G>A
NM_001136024.4:c.1467G>A
NM_198270.4:c.1935G>A
NM_001291867.2:c.1998G>A
NP_001278797.1:p.Glu468=
NP_001129496.1:p.Glu489=
NP_001278796.1:p.Glu666=
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,726,104 - 17,726,104CLINVAR
GRCh37X17,744,224 - 17,744,224CLINVAR
Cytogenetic MapXXp22.13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13516839
Created: 2018-04-10
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.