Genomic variant #0000040256

Individual ID 00019821
Chromosome 12
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.133250250G>C
DNA change (hg38) g.132673664G>C
Published as -
ISCN -
DB-ID POLE_000001 See all 8 reported entries
Variant remarks -
Reference PubMed: Elsayed 2015, Journal: Elsayed 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/1188 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Tom van Wezel
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POLE NM_006231.2 +?/. 13 c.1270C>G r.(?) p.(Leu424Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019808 DNA TaqMan - - POLE 1 Tom van Wezel