RGD:8586314 Rat Genome Database

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Variant: RGD:8586314 -  Homo sapiens

RGD ID: 8586314
ClinVar ID: CV120913
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BFSP1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 17,502,274
GRCh38 20 17,521,629
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001195.4:c.438+3219T>G
NG_012423.2:g.52592T>G
NC_000020.11:g.17521629A>C
NC_000020.10:g.17502274A>C
 intron|intron variant uncertain significance Lung cancer, somatic

Variant Details
Variant Transcripts
Gene Symbol:BFSP1
Accession:NM_001195
Location:INTRON

Gene Symbol:BFSP1
Accession:NM_001278608
Location:INTRON

Gene Symbol:BFSP1
Accession:NM_001424338
Location:INTRON

Gene Symbol:BFSP1
Accession:NM_001161705
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BFSP1
Accession:NM_001278607
Location:INTRON

Gene Symbol:BFSP1
Accession:NM_001278606
Location:INTRON

Variant Samples