RGD:150340349 Rat Genome Database

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Variant: RGD:150340349 -  Homo sapiens

RGD ID: 150340349
RS ID: rs3136146
ClinVar ID: CV1168347
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERCC4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 14,028,379
GRCh38 16 13,934,522
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.1213+220G>A
LRG_463:g.19366G>A
NG_011442.1:g.19366G>A
NC_000016.10:g.13934522G>A
More... 		02/24/2019 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ERCC4
Accession:XM_011522427
Location:5UTRS;INTRON

Gene Symbol:ERCC4
Accession:XM_011522424
Location:INTRON

Gene Symbol:ERCC4
Accession:NM_005236
Location:INTRON

Gene Symbol:ERCC4
Accession:XM_047433774
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001535270 CLINVAR
dbSNP (RS) rs3136146 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ERCC4 CLINVAR
OMIM 133520 CLINVAR