Variant #0000648037 (NC_000010.10:g.96030304C>T, PLCE1(NM_016341.3):c.4451C>T)

Individual ID 00290180
Chromosome 10
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.96030304C>T
DNA change (hg38) g.94270547C>T
Published as -
ISCN -
DB-ID PLCE1_000048
Variant remarks 1 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs121912605
Origin Germline
Segregation -
Frequency 1/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLCE1 NM_016341.3 +/. - c.4451C>T r.(?) p.(Ser1484Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000291348 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq