RGD:11603605 Rat Genome Database

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Variant: RGD:11603605 -  Homo sapiens

RGD ID: 11603605
RS ID: rs201178398
ClinVar ID: CV319137
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HEPACAM  HEPN1  LOC107984406  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 124,789,756
GRCh38 11 124,919,860
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.21553C>T
NC_000011.10:g.124919860G>A
NC_000011.9:g.124789756G>A
NM_152722.5:c.*1278C>T
More... 		03/02/2019 3 prime utr variant pathogenic|uncertain significance VAN DER KNAAP DISEASE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HEPACAM
Accession:NM_001411043
Location:3UTRS;EXON

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

Gene Symbol:HEPACAM
Accession:XM_005271449
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:HEPN1
Accession:NM_001037558
Location:EXON
Amino Acid Prediction: W to L (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNWGLGIAPWVDGESELEFRRLGMQGPLEALRRRELNTQRASFSFSFLIALSPHTVDYCHSYELFNRRWHGHVLATQRP
SLFILMLV*

Gene Symbol:
Accession:
Location:EXON;NON-CODING

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000301826 CLINVAR
dbSNP (RS) rs201178398 CLINVAR
MedGen C1858854 CLINVAR
NCBI Gene HEPACAM CLINVAR
  HEPN1 CLINVAR
OMIM 604004 CLINVAR
  611641 CLINVAR
  611642 CLINVAR