RGD:11621140 Rat Genome Database

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Variant: RGD:11621140 -  Homo sapiens

RGD ID: 11621140
RS ID: rs143343787
ClinVar ID: CV326100
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HEPACAM  LOC107984406  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 124,790,764
GRCh38 11 124,920,868
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.20545C>G
NC_000011.10:g.124920868G>C
NC_000011.9:g.124790764G>C
NM_152722.5:c.*270C>G
More... 		01/12/2018 3 prime utr variant likely benign|uncertain significance VAN DER KNAAP DISEASE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HEPACAM
Accession:XM_005271449
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:HEPACAM
Accession:NM_152722
Location:3UTRS;EXON

Gene Symbol:HEPACAM
Accession:NM_001411043
Location:3UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000344758 CLINVAR
dbSNP (RS) rs143343787 CLINVAR
MedGen C1858854 CLINVAR
NCBI Gene HEPACAM CLINVAR
OMIM 604004 CLINVAR
  611642 CLINVAR