RGD:15161594 Rat Genome Database

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Variant: RGD:15161594 -  Homo sapiens

RGD ID: 15161594
RS ID: rs1477624759
ClinVar ID: CV744883
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERCC4  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 14,029,610
GRCh38 16 13,935,753
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005236.3:c.1811+10A>G
NG_011442.1:g.20597A>G
NC_000016.10:g.13935753A>G
NC_000016.9:g.14029610A>G
More... 		12/04/2017 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ERCC4
Accession:XM_011522424
Location:INTRON

Gene Symbol:ERCC4
Accession:XM_047433774
Location:INTRON

Gene Symbol:ERCC4
Accession:XM_011522427
Location:INTRON

Gene Symbol:ERCC4
Accession:NM_005236
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000903378 CLINVAR
dbSNP (RS) rs1477624759 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ERCC4 CLINVAR
OMIM 133520 CLINVAR