Variant #0000066682 (NC_000010.10:g.96006109G>C, PLCE1(NM_016341.3):c.2827G>C)

Individual ID 00038646
Chromosome 10
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.96006109G>C
DNA change (hg38) g.94246352G>C
Published as -
ISCN -
DB-ID PLCE1_000003
Variant remarks not in 100 control chromosomes; not in 7 healthy relatives in homozygous state (relatives were either heterozygotes or negative for the variant)
Reference -
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 Irene (Eirini) Fylaktou
Database submission license No license selected
Created by Irene (Eirini) Fylaktou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLCE1 NM_016341.3 +?/. 7 c.2827G>C r.(?) p.(Ala943Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000038882 DNA SEQ whole blood, lymphocytes - NPHS1, NPHS2, PLCE1, WT1 1 Irene (Eirini) Fylaktou