RGD:150470739 Rat Genome Database

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Variant: RGD:150470739 -  Homo sapiens

RGD ID: 150470739
RS ID: rs34163646
ClinVar ID: CV1209385
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GYG1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 148,717,747
GRCh38 3 148,999,960
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001184721.2:c.481+3056C>T
NM_004130.4:c.481+3056C>T
NG_027677.1:g.13553C>T
NC_000003.12:g.148999960C>T
More...
07/26/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GYG1
Accession:NM_004130
Location:INTRON

Gene Symbol:GYG1
Accession:NM_001184720
Location:INTRON

Gene Symbol:GYG1
Accession:NM_001184721
Location:INTRON

Gene Symbol:GYG1
Accession:XM_017006275
Location:INTRON

Gene Symbol:GYG1
Accession:XM_017006276
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001588496 CLINVAR
dbSNP (RS) rs34163646 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GYG1 CLINVAR
OMIM 603942 CLINVAR