rs886061472 Rat Genome Database

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Variant: rs886061472 -  Homo sapiens

RGD ID: 11654543
RS ID: rs886061472
ClinVar ID: CV307627
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLH  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 43,587,301
GRCh38 6 43,619,564
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_470t1:c.*5007T>A
LRG_470:g.48424T>A
NG_009252.1:g.48424T>A
NC_000006.12:g.43619564T>A
More... 		01/13/2018 3 prime utr variant uncertain significance Photosensitivity with defective DNA synthesis; Xeroderma pigmentosum with normal DNA repair rates
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV307627Humanxeroderma pigmentosum variant type  IAGP 8554872ClinVar Annotator: match by term: Xeroderma pigmentosum variant typeClinVar 
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

Gene Symbol:POLR1C
Accession:NM_203290
Location:INTRON

Gene Symbol:POLR1C
Accession:NM_001318876
Location:INTRON

Gene Symbol:POLR1C
Accession:NM_001363658
Location:INTRON

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Database
Acc Id
Source(s)
ClinVar RCV000318679 CLINVAR
dbSNP (RS) rs886061472 CLINVAR
MedGen C1848410 CLINVAR
NCBI Gene POLH CLINVAR
OMIM 278750 CLINVAR
  603968 CLINVAR