RGD:150462850 Rat Genome Database

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Variant: RGD:150462850 -  Homo sapiens

RGD ID: 150462850
RS ID: rs8028217
ClinVar ID: CV1276139
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VPS13C  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 62,238,784
GRCh38 15 61,946,585
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017684.5:c.4748-175A>T
NM_018080.4:c.4748-175A>T
NM_001018088.3:c.4877-175A>T
NM_020821.3:c.4877-175A>T
More...
05/16/2021 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:VPS13C
Accession:NM_017684
Location:INTRON

Gene Symbol:VPS13C
Accession:NM_020821
Location:INTRON

Gene Symbol:VPS13C
Accession:NM_001018088
Location:INTRON

Gene Symbol:VPS13C
Accession:NM_018080
Location:INTRON

Gene Symbol:VPS13C
Accession:XM_011521713
Location:INTRON

Gene Symbol:VPS13C
Accession:XM_011521714
Location:INTRON

Gene Symbol:VPS13C
Accession:XM_047432741
Location:INTRON

Gene Symbol:VPS13C
Accession:XM_047432742
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001710084 CLINVAR
dbSNP (RS) rs8028217 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene VPS13C CLINVAR
OMIM 608879 CLINVAR