RGD:11611300 Rat Genome Database

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Variant: RGD:11611300 -  Homo sapiens

RGD ID: 11611300
RS ID: rs527613993
ClinVar ID: CV307504
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLH  POLR1C  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 43,584,234
GRCh38 6 43,616,497
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_470t1:c.*1940G>A
LRG_470:g.45357G>A
NG_009252.1:g.45357G>A
NC_000006.12:g.43616497G>A
More... 		01/13/2018 3 prime utr variant benign|uncertain significance Photosensitivity with defective DNA synthesis; Xeroderma pigmentosum with normal DNA repair rates
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:POLH
Accession:NM_001291969
Location:3UTRS;EXON

Gene Symbol:POLH
Accession:NM_006502
Location:3UTRS;EXON

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

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

Gene Symbol:POLR1C
Accession:XM_047419577
Location:INTRON

Gene Symbol:POLR1C
Accession:NM_203290
Location:INTRON

Gene Symbol:POLR1C
Accession:NM_001363658
Location:INTRON

Gene Symbol:POLR1C
Accession:NM_001318876
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000392915 CLINVAR
dbSNP (RS) rs527613993 CLINVAR
MedGen C1848410 CLINVAR
NCBI Gene POLH CLINVAR
  POLR1C CLINVAR
OMIM 278750 CLINVAR
  603968 CLINVAR
  610060 CLINVAR