RGD:26920500 Rat Genome Database

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Variant: RGD:26920500 -  Homo sapiens

RGD ID: 26920500
RS ID: rs1355768631
ClinVar ID: CV851453
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CABP4  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 67,225,042
GRCh38 11 67,457,571
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021211.1:g.7225A>C
NC_000011.10:g.67457571A>C
NC_000011.9:g.67225042A>C
NM_145200.3:c.542-2A>C
More... 		12/12/2019 splice acceptor variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:CABP4
Accession:XM_024448615
Location:INTRON

Gene Symbol:CABP4
Accession:NM_001379183
Location:INTRON

Gene Symbol:CABP4
Accession:NM_145200
Location:INTRON

Gene Symbol:CABP4
Accession:XM_005274114
Location:INTRON

Gene Symbol:CABP4
Accession:NM_001300896
Location:INTRON

Gene Symbol:CABP4
Accession:NM_001300895
Location:INTRON

Gene Symbol:CABP4
Accession:NR_166529
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:25307992   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001047812 CLINVAR
dbSNP (RS) rs1355768631 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CABP4 CLINVAR
OMIM 608965 CLINVAR