RGD:11620460 Rat Genome Database

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Variant: RGD:11620460 -  Homo sapiens

RGD ID: 11620460
RS ID: rs565142105
ClinVar ID: CV340523
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERCC4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 14,044,000
GRCh38 16 13,950,143
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_463t1:c.*1796T>C
LRG_463:g.34987T>C
NG_011442.1:g.34987T>C
NC_000016.10:g.13950143T>C
More... 		01/12/2018 3 prime utr variant uncertain significance XERODERMA PIGMENTOSUM VI; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; Xeroderma pigmentosum, type 6; XERODERMA PIGMENTOSUM, TYPE F; XP, GROUP F
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ERCC4
Accession:XM_011522427
Location:3UTRS;EXON

Gene Symbol:ERCC4
Accession:NM_005236
Location:3UTRS;EXON

Gene Symbol:ERCC4
Accession:XM_011522424
Location:3UTRS;EXON

Gene Symbol:ERCC4
Accession:XM_047433774
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000337072 CLINVAR
dbSNP (RS) rs565142105 CLINVAR
MedGen C0268140 CLINVAR
NCBI Gene ERCC4 CLINVAR
OMIM 133520 CLINVAR
  278760 CLINVAR
SNOMED CT 42530008 CLINVAR