RGD:11049925 Rat Genome Database

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Variant: RGD:11049925 -  Homo sapiens

RGD ID: 11049925
RS ID: rs139414598
ClinVar ID: CV225232
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BAP1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 52,440,418
GRCh38 3 52,406,402
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_529:g.8592T>A
NG_031859.1:g.8592T>A
NC_000003.12:g.52406402A>T
NC_000003.11:g.52440418A>T
More... 		06/15/2018 intron variant likely benign AllHighlyPenetrant; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Melanoma, uveal 2; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BAP1
Accession:XM_047449044
Location:INTRON

Gene Symbol:BAP1
Accession:NM_004656
Location:INTRON

Gene Symbol:BAP1
Accession:XM_011534152
Location:INTRON

Gene Symbol:BAP1
Accession:XM_011534151
Location:INTRON

Gene Symbol:BAP1
Accession:XM_011534149
Location:INTRON

Gene Symbol:BAP1
Accession:NM_001410772
Location:INTRON

Gene Symbol:BAP1
Accession:XM_011534150
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000209232 CLINVAR
  RCV000836316 CLINVAR
  RCV002267946 CLINVAR
  RCV003316155 CLINVAR
dbSNP (RS) rs139414598 CLINVAR
MedGen C0027672 CLINVAR
  C1847723 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene BAP1 CLINVAR
OMIM 603089 CLINVAR
  606661 CLINVAR
SNOMED CT 699346009 CLINVAR