RGD:14692746 Rat Genome Database

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Variant: RGD:14692746 -  Homo sapiens

RGD ID: 14692746
RS ID: rs1559591814
ClinVar ID: CV619339
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BAP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 52,442,640
GRCh38 3 52,408,624
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000003.12:g.52408624C>T
NC_000003.11:g.52442640C>T
NM_004656.4:c.123-18G>A
NG_031859.1:g.6370G>A
More... 		10/16/2018 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:XM_011534152
Location:INTRON

Gene Symbol:BAP1
Accession:NM_001410772
Location:INTRON

Gene Symbol:BAP1
Accession:NM_004656
Location:INTRON

Gene Symbol:BAP1
Accession:XM_011534150
Location:INTRON

Gene Symbol:BAP1
Accession:XM_011534149
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BAP1
Accession:XM_047449044
Location:INTRON

Gene Symbol:BAP1
Accession:XM_011534151
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000774369 CLINVAR
dbSNP (RS) rs1559591814 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene BAP1 CLINVAR
OMIM 603089 CLINVAR
SNOMED CT 699346009 CLINVAR