RGD:13837268 Rat Genome Database

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Variant: RGD:13837268 -  Homo sapiens

RGD ID: 13837268
RS ID: rs377572771
ClinVar ID: CV588556
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTPRQ  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 80,878,386
GRCh38 12 80,484,607
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_034052.1:g.45262T>C
NC_000012.12:g.80484607T>C
NC_000012.11:g.80878386T>C
NM_001145026.2:c.1359+2T>C
 11/30/2021 splice donor variant pathogenic|likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:PTPRQ
Accession:NM_001145026
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000733634 CLINVAR
dbSNP (RS) rs377572771 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PTPRQ CLINVAR
OMIM 603317 CLINVAR