RGD:13537786 Rat Genome Database

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Variant: RGD:13537786 -  Homo sapiens

RGD ID: 13537786
RS ID: rs137928955
ClinVar ID: CV497630
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DIABLO  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 122,701,424
GRCh38 12 122,216,877
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001278304.2:c.157-8A>G
NM_138930.3:c.157-8A>G
NM_001278342.1:c.184-8A>G
NG_029459.1:g.15645A>G
More... 		09/06/2017 intron variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:DIABLO
Accession:NM_001278302
Location:INTRON

Gene Symbol:DIABLO
Accession:NM_001278304
Location:INTRON

Gene Symbol:DIABLO
Accession:NM_138930
Location:INTRON

Gene Symbol:DIABLO
Accession:NM_001371333
Location:INTRON

Gene Symbol:DIABLO
Accession:NM_001278342
Location:INTRON

Gene Symbol:DIABLO
Accession:NM_001278303
Location:INTRON

Gene Symbol:DIABLO
Accession:NM_019887
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000610883 CLINVAR
  RCV001783105 CLINVAR
dbSNP (RS) rs137928955 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene DIABLO CLINVAR
OMIM 605219 CLINVAR