Genomic variant #0000016961

Individual ID 00000357
Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.50909713G>A
DNA change (hg38) g.50406456G>A
Published as -
ISCN -
DB-ID POLD1_000001 See all 2 reported entries
Variant remarks -
Reference PubMed: Palles et al. 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Ian Tomlinson




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
POLD1 NM_001256849.1 +/+ 12 c.1433G>A - r.1433G>A p.Ser478Asn



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000372 DNA ? - - POLD1, POLE 1 Ian Tomlinson