Variant #0000039618 (NC_000010.10:g.96066275A>G, PLCE1(NM_016341.3):c.5714A>G)

Individual ID 00019412
Chromosome 10
Allele Paternal (confirmed)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.96066275A>G
DNA change (hg38) g.94306518A>G
Published as -
ISCN -
DB-ID PLCE1_000001
Variant remarks -
Reference PubMed: Bullich 2015, Journal: Bullich 2015
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 Elisabet Ars Criach
Database submission license No license selected
Created by Elisabet Ars Criach
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLCE1 NM_016341.3 ?/. 26 c.5714A>G r.(?) p.(His1905Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019397 DNA SEQ;SEQ-NG-I - - NPHS2, PLCE1 2 Elisabet Ars Criach