RGD:13467713 Rat Genome Database

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Variant: RGD:13467713 -  Homo sapiens

RGD ID: 13467713
RS ID: rs202146533
ClinVar ID: CV470861
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BFSP1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 17,479,458
GRCh38 20 17,498,813
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000020.11:g.17498813C>G
NG_012423.2:g.75408G>C
NC_000020.10:g.17479458C>G
NM_001278606.2:c.539+7G>C
More...
09/08/2017 intron variant likely benign CATARACT 33, CORTICAL; Cataract 33, multiple types
Disease Annotations     Click to see Annotation Detail View
cataract 33  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:BFSP1
Accession:NM_001161705
Location:INTRON

Gene Symbol:BFSP1
Accession:NM_001195
Location:INTRON

Gene Symbol:BFSP1
Accession:NM_001278608
Location:INTRON

Gene Symbol:BFSP1
Accession:NM_001278607
Location:INTRON

Gene Symbol:BFSP1
Accession:NM_001278606
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000555661 CLINVAR
dbSNP (RS) rs202146533 CLINVAR
MedGen C3808107 CLINVAR
NCBI Gene BFSP1 CLINVAR
OMIM 603307 CLINVAR
  611391 CLINVAR