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Variant : CV580756 (NM_198270.4(NHS):c.2994A>G (p.Ala998=)) Homo sapiens

Symbol: CV580756
Name: NM_198270.4(NHS):c.2994A>G (p.Ala998=)
Condition: History of neurodevelopmental disorder [RCV000718544]|Neurodevelopmental [RCV000718544]
Clinical Significance: likely benign
Last Evaluated: 05/18/2017
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.17727163A>G
NM_198270.2:c.2994A>G
NG_011553.2:g.356744A>G
NP_938011.1:p.Ala998=
NC_000023.10:g.17745283A>G
NM_001291868.2:c.2463A>G
NM_001136024.4:c.2526A>G
NM_198270.4:c.2994A>G
NM_001291867.2:c.3057A>G
NP_001278796.1:p.Ala1019=
NP_001278797.1:p.Ala821=
NP_001129496.1:p.Ala842=
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,727,163 - 17,727,163CLINVAR
GRCh37X17,745,283 - 17,745,283CLINVAR
Cytogenetic MapXXp22.13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13829616
Created: 2018-12-06
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.