RGD:28871088 Rat Genome Database

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Variant: RGD:28871088 -  Homo sapiens

RGD ID: 28871088
RS ID: rs3916889
ClinVar ID: CV882126
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERCC2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 45,854,817
GRCh38 19 45,351,559
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_461t1:c.*70C>T
NM_000400.4:c.*70C>T
NC_000019.10:g.45351559G>A
NC_000019.9:g.45854817G>A
More... 		01/13/2018 3 prime utr variant uncertain significance 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:3UTRS;EXON

Gene Symbol:ERCC2
Accession:XM_011526611
Location:3UTRS;EXON

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

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

Gene Symbol:ERCC2
Accession:NM_001130867
Location:INTRON

Gene Symbol:ERCC2
Accession:XM_047438393
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001131564 CLINVAR
dbSNP (RS) rs3916889 CLINVAR
MedGen C0268138 CLINVAR
NCBI Gene ERCC2 CLINVAR
OMIM 126340 CLINVAR
  278730 CLINVAR
SNOMED CT 68637004 CLINVAR