Genomic variant #0000116958

Individual ID 00073163
Chromosome 20
Allele Maternal (confirmed)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.1961087G>A
DNA change (hg38) g.1980441G>A
Published as -
ISCN -
DB-ID PDYN_000001
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Claire Guissart




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PDYN NM_024411.4 -?/. 4 c.647C>T - r.(?) p.(Pro216Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073322 DNA SEQ;SEQ-NG-I - - PDYN 1 Claire Guissart