Variant #0000786985 (NC_000022.10:g.38528838C>T, PLA2G6(NM_003560.2):c.1077G>A)

Individual ID 00374440
Chromosome 22
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.38528838C>T
DNA change (hg38) g.38132831C>T
Published as -
ISCN -
DB-ID PLA2G6_000099 See all 3 reported entries
Variant remarks -
Reference PubMed: Ganapathy 2019
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 +/. 7 c.1077G>A r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000375634 DNA SEQ-NG - TruSight One panel PLA2G6 1 Johan den Dunnen