RGD:407574565 Rat Genome Database

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Variant: RGD:407574565 -  Homo sapiens

RGD ID: 407574565
ClinVar ID: CV3499576
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SHANK1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 51,171,082
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_016148.5:c.4135A>G
NC_000019.10:g.50667825T>C
NC_000019.9:g.51171082T>C
NM_016148.2:c.4135A>G
More...
10/31/2023 missense variant uncertain significance none provided

Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004719572 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SHANK1 CLINVAR
OMIM 604999 CLINVAR