RGD:14744341 Rat Genome Database

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Variant: RGD:14744341 -  Homo sapiens

RGD ID: 14744341
RS ID: rs56929349
ClinVar ID: CV666138
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTPRQ  
Reference Nucleotide: -
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 80,890,325
GRCh38 12 80,496,546
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001145026.2:c.2272+15_2272+16insG
NG_034052.1:g.57201_57202insG
NC_000012.12:g.80496546_80496547insG
NC_000012.11:g.80890325_80890326insG
More... 		06/13/2018 intron variant benign Deafness, autosomal dominant 73; Deafness, autosomal recessive 84; DEAFNESS, AUTOSOMAL RECESSIVE 84A; DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION; none provided
Disease Annotations     Click to see Annotation Detail View


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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000842694 CLINVAR
  RCV001796272 CLINVAR
  RCV001796273 CLINVAR
dbSNP (RS) rs56929349 CLINVAR
MedGen C3150654 CLINVAR
  C3661900 CLINVAR
  C4540024 CLINVAR
NCBI Gene PTPRQ CLINVAR
OMIM 603317 CLINVAR
  613391 CLINVAR
  617663 CLINVAR