RGD:15117198 Rat Genome Database

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Variant: RGD:15117198 -  Homo sapiens

RGD ID: 15117198
RS ID: rs558250151
ClinVar ID: CV760619
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERCC2  LOC129664477  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 45,860,637
GRCh38 19 45,357,379
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000400.4:c.1378-8C>T
NG_007067.2:g.18209C>T
NC_000019.10:g.45357379G>A
NC_000019.9:g.45860637G>A
More... 		11/01/2022 intron variant likely benign|uncertain significance none provided; Xeroderma pigmentosa
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ERCC2
Accession:XM_047438393
Location:INTRON

Gene Symbol:ERCC2
Accession:NM_000400
Location:INTRON

Gene Symbol:ERCC2
Accession:NM_001130867
Location:INTRON

Gene Symbol:ERCC2
Accession:XM_011526611
Location:INTRON

Gene Symbol:ERCC2
Accession:XR_007066680
Location:INTRON;NON-CODING

Gene Symbol:ERCC2
Accession:XR_001753633
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000917756 CLINVAR
  RCV002256598 CLINVAR
dbSNP (RS) rs558250151 CLINVAR
MedGen C0043346 CLINVAR
  C3661900 CLINVAR
NCBI Gene ERCC2 CLINVAR
OMIM 126340 CLINVAR
SNOMED CT 44600005 CLINVAR