rs886061470 Rat Genome Database

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Variant: rs886061470 -  Homo sapiens

RGD ID: 11655189
RS ID: rs886061470
ClinVar ID: CV303145
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: POLH  
Reference Nucleotide: C
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 6 43,587,102
GRCh38 6 43,619,365
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_006502.2:c.*4807delC
LRG_470:g.48224del
NM_006502.3:c.*4807del
NM_001291969.2:c.*4807del
More... 		06/14/2016 3 prime utr variant uncertain significance Xeroderma pigmentosa
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV303145Humanxeroderma pigmentosum  IAGP 8554872ClinVar Annotator: match by term: Xeroderma pigmentosumClinVar 
Gene Symbol:POLH
Accession:NM_006502
Location:3UTRS;EXON

Gene Symbol:POLH
Accession:NM_001291970
Location:3UTRS;EXON

Gene Symbol:POLH
Accession:NM_001291969
Location:3UTRS;EXON

Gene Symbol:POLH
Accession:XM_047418900
Location:3UTRS;EXON

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Database
Acc Id
Source(s)
ClinVar RCV000324073 CLINVAR
dbSNP (RS) rs886061470 CLINVAR
MedGen C0043346 CLINVAR
NCBI Gene POLH CLINVAR
OMIM 603968 CLINVAR
SNOMED CT 44600005 CLINVAR