RGD:13445969 Rat Genome Database

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Variant: RGD:13445969 -  Homo sapiens

RGD ID: 13445969
RS ID: rs1555056722
ClinVar ID: CV437917
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HEPACAM  LOC107984406  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 124,805,817
GRCh38 11 124,935,921
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_029603.1:g.5492G>A
NC_000011.10:g.124935921C>T
NC_000011.9:g.124805817C>T
NM_152722.5:c.85+1G>A
More... 		06/30/2017 splice donor variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:HEPACAM
Accession:NM_152722
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:HEPACAM
Accession:NM_001411043
Location:INTRON

Gene Symbol:HEPACAM
Accession:XM_005271449
Location:INTRON

Gene Symbol:LOC107984406
Accession:XR_001748429
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000513100 CLINVAR
dbSNP (RS) rs1555056722 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HEPACAM CLINVAR
OMIM 611642 CLINVAR