Variant #0000298887 (NC_000010.10:g.96081692_96081693del, PLCE1(NM_016341.3):c.6377_6378del)

Chromosome 10
Allele Unknown
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.96081692_96081693del
DNA change (hg38) g.94321935_94321936del
Published as PLCE1(NM_016341.3):c.6377_6378delAA (p.K2126Rfs*17)
ISCN -
DB-ID PLCE1_000025
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) Variant not found in online data sets
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLCE1 NM_016341.3 +/. - c.6377_6378del r.(?) p.(Lys2126ArgfsTer17)