RGD:28902677 Rat Genome Database

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Variant: RGD:28902677 -  Homo sapiens

RGD ID: 28902677
RS ID: rs890357088
ClinVar ID: CV895107
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SEC63  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 108,189,775
GRCh38 6 107,868,571
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_007214.5:c.*3133C>A
NG_008270.1:g.94708C>A
NC_000006.12:g.107868571G>T
NC_000006.11:g.108189775G>T
More... 		01/13/2018 3 prime utr variant uncertain significance POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SEC63
Accession:XM_047418130
Location:3UTRS;EXON

Gene Symbol:SEC63
Accession:NM_007214
Location:3UTRS;EXON

Gene Symbol:SEC63
Accession:XM_047418131
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001157223 CLINVAR
dbSNP (RS) rs890357088 CLINVAR
MedGen C4310769 CLINVAR
NCBI Gene SEC63 CLINVAR
OMIM 608648 CLINVAR
  617004 CLINVAR