RGD:153001637 Rat Genome Database

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Variant: RGD:153001637 -  Homo sapiens

RGD ID: 153001637
RS ID: rs1218748702
ClinVar ID: CV1684604
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERCC3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 128,018,921
GRCh38 2 127,261,345
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007454.1:g.37832G>A
NC_000002.12:g.127261345C>T
NC_000002.11:g.128018921C>T
NM_000122.1:c.1947G>A
More... 		11/12/2021 synonymous variant likely benign Xeroderma pigmentosa
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ERCC3
Accession:XM_011510795
Location:EXON

Gene Symbol:ERCC3
Accession:NM_000122
Location:EXON

Gene Symbol:ERCC3
Accession:NM_001303416
Location:EXON

Gene Symbol:ERCC3
Accession:XM_011510794
Location:EXON

Gene Symbol:ERCC3
Accession:NM_001303418
Location:EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002257078 CLINVAR
dbSNP (RS) rs1218748702 CLINVAR
MedGen C0043346 CLINVAR
NCBI Gene ERCC3 CLINVAR
OMIM 133510 CLINVAR
SNOMED CT 44600005 CLINVAR