RGD:21074105 Rat Genome Database

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Variant: RGD:21074105 -  Homo sapiens

RGD ID: 21074105
RS ID: rs200443634
ClinVar ID: CV793797
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERCC2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 45,873,490
GRCh38 19 45,370,232
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.6G>C
NC_000019.9:g.45873490C>G
NM_000400.3:c.6G>C
NC_000019.9:g.45873490C>G
More...
09/01/2021 5 prime utr 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_001130867
Location:5UTRS;EXON

Gene Symbol:ERCC2
Accession:NM_000400
Location:INTRON

Gene Symbol:ERCC2
Accession:XM_011526611
Location:INTRON

Gene Symbol:ERCC2
Accession:XM_047438393
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:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000991966 CLINVAR
  RCV001136198 CLINVAR
dbSNP (RS) rs200443634 CLINVAR
MedGen C0268138 CLINVAR
  CN517202 CLINVAR
NCBI Gene ERCC2 CLINVAR
OMIM 126340 CLINVAR
  278730 CLINVAR
SNOMED CT 68637004 CLINVAR