rs398124126 Rat Genome Database

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Variant: rs398124126 -  Homo sapiens

RGD ID: 151235564
RS ID: rs398124126
ClinVar ID: CV1318902
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A3  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 238,269,763
GRCh38 2 237,361,120
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_057166.5:c.4389+1G>T
NM_057167.4:c.5592+1G>T
NM_004369.4:c.6210+1G>T
LRG_473:g.58088G>T
More... 		splice donor variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:COL6A3
Accession:NM_057167
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_057165
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_057164
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_057166
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_004369
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001795718 CLINVAR
dbSNP (RS) rs398124126 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL6A3 CLINVAR
OMIM 120250 CLINVAR