RGD:11627559 Rat Genome Database

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Variant: RGD:11627559 -  Homo sapiens

RGD ID: 11627559
RS ID: rs762719901
ClinVar ID: CV349079
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERCC2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 45,866,997
GRCh38 19 45,363,739
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000400.3:c.1118+4C>G
LRG_461t1:c.1118+4C>G
LRG_461:g.11849C>G
NG_007067.2:g.11849C>G
More... 		01/13/2018 intron variant uncertain significance none provided; XERODERMA PIGMENTOSUM IV; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XP, GROUP D; XP, GROUP H; XP4 XERODERMA PIGMENTOSUM VIII
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ERCC2
Accession:NM_000400
Location:INTRON

Gene Symbol:ERCC2
Accession:NM_001130867
Location:INTRON

Gene Symbol:ERCC2
Accession:XM_047438393
Location:INTRON

Gene Symbol:ERCC2
Accession:XM_011526611
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000284872 CLINVAR
  RCV001320125 CLINVAR
dbSNP (RS) rs762719901 CLINVAR
MedGen C0268138 CLINVAR
  CN517202 CLINVAR
NCBI Gene ERCC2 CLINVAR
OMIM 126340 CLINVAR
  278730 CLINVAR
SNOMED CT 68637004 CLINVAR