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

Variant : CV580885 (NM_198270.4(NHS):c.2030G>A (p.Arg677Gln)) Homo sapiens

Symbol: CV580885
Name: NM_198270.4(NHS):c.2030G>A (p.Arg677Gln)
Condition: History of neurodevelopmental disorder [RCV000717083]|Neurodevelopmental [RCV000717083]
Clinical Significance: benign
Last Evaluated: 02/06/2018
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.355780G>A
NC_000023.11:g.17726199G>A
NC_000023.10:g.17744319G>A
NM_198270.2:c.2030G>A
NP_938011.1:p.Arg677Gln
NM_001291868.2:c.1499G>A
NM_001136024.4:c.1562G>A
NM_198270.4:c.2030G>A
NP_001129496.1:p.Arg521Gln
NP_001278796.1:p.Arg698Gln
NM_001291867.2:c.2093G>A
NP_001278797.1:p.Arg500Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,726,199 - 17,726,199CLINVAR
GRCh37X17,744,319 - 17,744,319CLINVAR
Cytogenetic MapXXp22.13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13828986
Created: 2018-12-06
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.