RGD:13513122 Rat Genome Database

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Variant: RGD:13513122 -  Homo sapiens

RGD ID: 13513122
RS ID: rs923614321
ClinVar ID: CV483682
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BAP1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 52,436,706
GRCh38 3 52,402,690
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_529:g.12304T>G
NG_031859.1:g.12304T>G
NC_000003.12:g.52402690A>C
NC_000003.11:g.52436706A>C
More... 		10/06/2016 intron variant likely benign BAP1 tumor predisposition syndrome; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition; TUMOR PREDISPOSITION SYNDROME 1; Tumor susceptibility linked to germline BAP1 mutations
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BAP1
Accession:NM_004656
Location:INTRON

Gene Symbol:BAP1
Accession:XM_011534152
Location:INTRON

Gene Symbol:BAP1
Accession:XM_011534150
Location:INTRON

Gene Symbol:BAP1
Accession:XM_011534151
Location:INTRON

Gene Symbol:BAP1
Accession:NM_001410772
Location:INTRON

Gene Symbol:BAP1
Accession:XM_011534149
Location:INTRON

Gene Symbol:BAP1
Accession:XM_047449044
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000584563 CLINVAR
  RCV002061710 CLINVAR
dbSNP (RS) rs923614321 CLINVAR
MedGen C0027672 CLINVAR
  C3280492 CLINVAR
NCBI Gene BAP1 CLINVAR
OMIM 603089 CLINVAR
  614327 CLINVAR
SNOMED CT 699346009 CLINVAR