Genomic variant #0000437655

Individual ID 00206904
Chromosome 19
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.50365058_50365074dup
DNA change (hg38) -
Published as 1253_1269dupGGGTCGCCATCGACAAC
ISCN -
DB-ID PNKP_000045 See all 8 reported entries
Variant remarks -
Reference PubMed: Bras 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PNKP NM_007254.3 +/. - c.1253_1269dup r.(?) p.(Thr424Glyfs*49)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000207938 DNA SEQ-NG - WES PNKP 2 Johan den Dunnen