rs4647120 Rat Genome Database

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Variant: rs4647120 -  Homo sapiens

RGD ID: 150514924
RS ID: rs4647120
ClinVar ID: CV1228674
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERCC8  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 60,195,619
GRCh38 5 60,899,792
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001290285.2:c.159-65G>A
NM_001007233.3:c.444-65G>A
NM_000082.4:c.618-65G>A
LRG_466:g.50287G>A
More... 		07/10/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ERCC8
Accession:NM_001007234
Location:INTRON

Gene Symbol:ERCC8
Accession:NM_000082
Location:INTRON

Gene Symbol:ERCC8
Accession:NM_001290285
Location:INTRON

Gene Symbol:ERCC8
Accession:NM_001007233
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001638662 CLINVAR
dbSNP (RS) rs4647120 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ERCC8 CLINVAR
OMIM 609412 CLINVAR