Variant #0000438955 (NC_000010.10:g.95892201C>T, PLCE1(NM_016341.3):c.1477C>T)

Individual ID 00207881
Chromosome 10
Allele Both (homozygous)
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.95892201C>T
DNA change (hg38) g.94132444C>T
Published as NM_001165979.1:c.553C>T
ISCN -
DB-ID PLCE1_000029 See all 2 reported entries
Variant remarks -
Reference PubMed: Lionel 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Johan den Dunnen
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.1477C>T r.(?) p.(Arg493*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208923 DNA SEQ - WGS PLCE1 1 Johan den Dunnen