RGD:151743031 Rat Genome Database

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Variant: RGD:151743031 -  Homo sapiens

RGD ID: 151743031
RS ID: rs748961972
ClinVar ID: CV1466701
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCAT2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 49,300,291
GRCh38 19 48,797,034
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001190.4:c.839-12C>G
NG_013003.1:g.19030C>G
NC_000019.10:g.48797034G>C
NM_001164773.2:c.563-12C>G
More... 		08/19/2021 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:BCAT2
Accession:NM_001164773
Location:INTRON

Gene Symbol:BCAT2
Accession:NM_001190
Location:INTRON

Gene Symbol:BCAT2
Accession:NM_001284325
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001871205 CLINVAR
dbSNP (RS) rs748961972 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene BCAT2 CLINVAR
OMIM 113530 CLINVAR