RGD:150514236 Rat Genome Database

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Variant: RGD:150514236 -  Homo sapiens

RGD ID: 150514236
RS ID: rs7168164
ClinVar ID: CV1228122
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VPS13C  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 62,301,094
GRCh38 15 62,008,895
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001018088.3:c.1012-134C>T
NM_020821.3:c.1012-134C>T
NM_017684.5:c.883-134C>T
NM_018080.4:c.883-134C>T
More... 		05/16/2021 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:VPS13C
Accession:NM_001018088
Location:INTRON

Gene Symbol:VPS13C
Accession:XM_011521713
Location:INTRON

Gene Symbol:VPS13C
Accession:XM_047432741
Location:INTRON

Gene Symbol:VPS13C
Accession:NM_018080
Location:INTRON

Gene Symbol:VPS13C
Accession:NM_020821
Location:INTRON

Gene Symbol:VPS13C
Accession:XM_011521714
Location:INTRON

Gene Symbol:VPS13C
Accession:XM_047432742
Location:INTRON

Gene Symbol:VPS13C
Accession:NM_017684
Location:INTRON

Gene Symbol:VPS13C
Accession:XR_007064464
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001638400 CLINVAR
dbSNP (RS) rs7168164 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene VPS13C CLINVAR
OMIM 608879 CLINVAR