RGD:12839671 Rat Genome Database

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Variant: RGD:12839671 -  Homo sapiens

RGD ID: 12839671
RS ID: rs777663292
ClinVar ID: CV375374
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MVP-DT  PRRT2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 29,824,344
GRCh38 16 29,813,023
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_032039.1:g.5936C>T
NC_000016.10:g.29813023C>T
NC_000016.9:g.29824344C>T
NM_001256442.2:c.-32C>T
More... 		02/12/2016 5 prime utr variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PRRT2
Accession:NM_145239
Location:5UTRS;EXON

Gene Symbol:PRRT2
Accession:XM_017022888
Location:5UTRS;EXON

Gene Symbol:PRRT2
Accession:XM_011545715
Location:5UTRS;EXON

Gene Symbol:PRRT2
Accession:XM_017022889
Location:5UTRS;EXON

Gene Symbol:PRRT2
Accession:NM_001256443
Location:5UTRS;EXON

Gene Symbol:PRRT2
Accession:NM_001256442
Location:5UTRS;EXON

Gene Symbol:PRRT2
Accession:XM_017022887
Location:5UTRS;EXON

Gene Symbol:MVP-DT
Accession:NR_186424
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000429257 CLINVAR
dbSNP (RS) rs777663292 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MVP-DT CLINVAR
  PRRT2 CLINVAR
OMIM 614386 CLINVAR