Variant #0000184489 (NC_000021.8:g.47783566_47783567del, PCNT(NM_006031.5):c.2326_2327del)

Individual ID 00114690
Chromosome 21
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.47783566_47783567del
DNA change (hg38) g.46363651_46363652del
Published as 2326_2327delGA
ISCN -
DB-ID PCNT_000002
Variant remarks -
Reference PubMed: Willems 2009
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Emmelien Aten
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCNT NM_006031.5 +/? 14 c.2326_2327del r.(?) p.(Glu776Lysfs*3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000115147 DNA SEQ - - PCNT 1 Emmelien Aten