RGD:9688800 Rat Genome Database

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Variant: RGD:9688800 -  Homo sapiens

RGD ID: 9688800
RS ID: rs2064201
ClinVar ID: CV178061
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SEC63  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 108,243,125
GRCh38 6 107,921,921
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008270.1:g.41358G>T
NC_000006.12:g.107921921C>A
NC_000006.11:g.108243125C>A
NM_007214.5:c.340-12G>T
 10/20/2021 intron variant benign|likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:SEC63
Accession:XM_047418131
Location:5UTRS;INTRON

Gene Symbol:SEC63
Accession:XM_047418130
Location:INTRON

Gene Symbol:SEC63
Accession:NM_007214
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000153930 CLINVAR
  RCV001558176 CLINVAR
dbSNP (RS) rs2064201 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SEC63 CLINVAR
OMIM 608648 CLINVAR