RGD:14730126 Rat Genome Database

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Variant: RGD:14730126 -  Homo sapiens

RGD ID: 14730126
RS ID: rs6764555
ClinVar ID: CV659747
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GYG1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 148,726,933
GRCh38 3 149,009,146
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001184720.2:c.482-130G>A
NM_001184721.2:c.482-130G>A
NM_004130.3:c.482-130G>A
NM_004130.4:c.482-130G>A
More... 		06/14/2018 intron variant 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:XM_017006276
Location:INTRON

Gene Symbol:GYG1
Accession:XM_017006275
Location:INTRON

Gene Symbol:GYG1
Accession:NM_001184721
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000835529 CLINVAR
dbSNP (RS) rs6764555 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GYG1 CLINVAR
OMIM 603942 CLINVAR