RGD:15152958 Rat Genome Database

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Variant: RGD:15152958 -  Homo sapiens

RGD ID: 15152958
RS ID: rs200794949
ClinVar ID: CV731289
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCAM  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 45,317,852
GRCh38 19 44,814,595
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001013257.2:c.922-9G>A
NM_005581.5:c.922-9G>A
NG_007480.1:g.10515G>A
NC_000019.10:g.44814595G>A
More... 		08/12/2019 intron variant benign|likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:BCAM
Accession:NM_005581
Location:INTRON

Gene Symbol:BCAM
Accession:NM_001013257
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000879914 CLINVAR
  RCV003940392 CLINVAR
dbSNP (RS) rs200794949 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene BCAM CLINVAR
OMIM 612773 CLINVAR