RGD:34899501 Rat Genome Database

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Variant: RGD:34899501 -  Homo sapiens

RGD ID: 34899501
RS ID: rs1705192440
ClinVar ID: CV915683
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BAP1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 52,441,179
GRCh38 3 52,407,163
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004656.4:c.580+11T>C
LRG_529:g.7831T>C
NG_031859.1:g.7831T>C
NC_000003.12:g.52407163A>G
More... 		01/30/2019 intron variant likely benign Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
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_011534149
Location:INTRON

Gene Symbol:BAP1
Accession:XM_047449044
Location:INTRON

Gene Symbol:BAP1
Accession:NM_001410772
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:
Accession:
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001188499 CLINVAR
dbSNP (RS) rs1705192440 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene BAP1 CLINVAR
OMIM 603089 CLINVAR
SNOMED CT 699346009 CLINVAR