Genomic variant #0000440021

Individual ID 00208755
Chromosome 20
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.1961076_1961077del
DNA change (hg38) g.1980430_1980431del
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

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



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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