Variant #0000683567 (NC_000021.8:g.47775484G>C, PCNT(NM_006031.5):c.1879G>C)

Individual ID 00307960
Chromosome 21
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.47775484G>C
DNA change (hg38) g.46355569G>C
Published as -
ISCN -
DB-ID PCNT_000498
Variant remarks ACMG PS4,PM2
Reference PubMed: Anazi 2017
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 +?/. - c.1879G>C r.(?) p.(Glu627Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000309104 DNA SEQ;SEQ-NG - clinical WES PCNT 1 Johan den Dunnen