Variant #0000821033 (NC_000021.8:g.47783647C>T, PCNT(NM_006031.5):c.2407C>T)

Individual ID 00390054
Chromosome 21
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.47783647C>T
DNA change (hg38) g.46363732C>T
Published as -
ISCN -
DB-ID PCNT_000223 See all 2 reported entries
Variant remarks ACMG PVS1, PM2, PP3, PP4
Reference PubMed: Kritioti 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
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.2407C>T r.(?) p.(Gln803Ter)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000391295 DNA SEQ;SEQ-NG - WES - 1 Johan den Dunnen