RGD:28881967 Rat Genome Database

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Variant: RGD:28881967 -  Homo sapiens

RGD ID: 28881967
RS ID: rs567543133
ClinVar ID: CV874671
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERCC4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 14,045,053
GRCh38 16 13,951,196
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.*2849G>A
LRG_463t1:c.*2849G>A
NC_000016.10:g.13951196G>A
LRG_463:g.36040G>A
More... 		03/30/2018 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_011522424
Location:3UTRS;EXON

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

Gene Symbol:ERCC4
Accession:XM_011522427
Location:3UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001117984 CLINVAR
dbSNP (RS) rs567543133 CLINVAR
MedGen C0268140 CLINVAR
NCBI Gene ERCC4 CLINVAR
OMIM 133520 CLINVAR
  278760 CLINVAR
SNOMED CT 42530008 CLINVAR