Genomic variant #0000116910

Individual ID 00073125
Chromosome 20
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.1961075_1961076del
DNA change (hg38) g.1980429_1980430del
Published as 658_659delTG
ISCN -
DB-ID PDYN_000002 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Claire Guissart




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PDYN NM_024411.4 +/. 4 c.658_659del - r.(?) p.(Trp220Glyfs*33)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073283 DNA SEQ;SEQ-NG-I - - PDYN 1 Claire Guissart