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Variant : CV581118 (NM_003179.2(SYP):c.398G>A (p.Arg133Gln)) Homo sapiens

Symbol: CV581118
Name: NM_003179.2(SYP):c.398G>A (p.Arg133Gln)
Condition: History of neurodevelopmental disorder [RCV000721082]|Neurodevelopmental [RCV000721082]
Clinical Significance: likely benign
Last Evaluated: 06/05/2013
Review Status: criteria provided, single submitter
Related Genes: SYP  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_003179.2:c.398G>A
NG_012532.1:g.11014G>A
NC_000023.11:g.49194191C>T
NC_000023.10:g.49050648C>T
NP_003170.1:p.Arg133Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh38X49,194,191 - 49,194,191CLINVAR
GRCh37X49,050,648 - 49,050,648CLINVAR
Cytogenetic MapXXp11.23CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13830833
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.