Genomic variant #0000440021

Individual ID 00208755
Chromosome 20
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.1961075_1961076del
DNA change (hg38) -
Published as -
ISCN -
DB-ID PDYN_000002 See all 3 reported entries
Variant remarks reported in Jezierska ; 2013. J Neurol 260: 1807-12
Reference -
ClinVar ID -
dbSNP ID rs748307861
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Andreas Laner




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PDYN NM_024411.4 ?/. - c.658_659del ACMG: 3 r.(?) p.Trp220Glyfs*33



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000209804 DNA SEQ-NG - - - 6 Andreas Laner