Variant #0000022844 (NC_000021.8:g.47746432G>T, PCNT(NM_006031.5):c.196G>T)

Individual ID 00004045
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.47746432G>T
DNA change (hg38) g.46326518G>T
Published as -
ISCN -
DB-ID PCNT_000017
Variant remarks -
Reference PubMed: Shaheen 2014, Journal: Shaheen 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Fowzan Alkuraya
Database submission license No license selected
Created by Fowzan Alkuraya
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCNT NM_006031.5 +/? 2 c.196G>T r.(?) p.(Gly66*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000003967 DNA PCR - - PCNT 1 Fowzan Alkuraya