rs145612937 Rat Genome Database

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Variant: rs145612937 -  Homo sapiens

RGD ID: 11610257
RS ID: rs145612937
ClinVar ID: CV307790
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLH  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 43,586,141
GRCh38 6 43,618,404
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_470t1:c.*3847G>A
LRG_470:g.47264G>A
NG_009252.1:g.47264G>A
NC_000006.12:g.43618404G>A
More... 		01/13/2018 3 prime utr variant benign 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)
CV307790Humanxeroderma 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 RCV000379029 CLINVAR
dbSNP (RS) rs145612937 CLINVAR
MedGen C1848410 CLINVAR
NCBI Gene POLH CLINVAR
OMIM 278750 CLINVAR
  603968 CLINVAR