Variant #0000300965 (NC_000010.10:g.95892129T>A, PLCE1(NM_016341.3):c.1405T>A)

Chromosome 10
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.95892129T>A
DNA change (hg38) g.94132372T>A
Published as PLCE1(NM_016341.3):c.1405T>A (p.S469T)
ISCN -
DB-ID PLCE1_000008 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.03097 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLCE1 NM_016341.3 -/. - c.1405T>A r.(?) p.(Ser469Thr)