Variant #0000763120 (NC_000022.10:g.38525523del, PLA2G6(NM_003560.2):c.1125del)

Individual ID 00361518
Chromosome 22
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.38525523del
DNA change (hg38) g.38129516del
Published as -
ISCN -
DB-ID PLA2G6_000183
Variant remarks ACMG PVS1, PM2
Reference PubMed: Anazi 2017
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 Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLA2G6 NM_003560.2 +?/. - c.1125del r.(?) p.(Val376Trpfs*14)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000362746 DNA SEQ-NG - 758-gene panel PLA2G6 1 Johan den Dunnen