Variant #0000653271 (NC_000022.10:g.38528924C>A, PLA2G6(NM_003560.2):c.991G>T)

Individual ID 00295414
Chromosome 22
Allele Parent #1
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.38528924C>A
DNA change (hg38) g.38132917C>A
Published as -
ISCN -
DB-ID PLA2G6_000169
Variant remarks 1 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs199935023
Origin Germline
Segregation -
Frequency 1/2794 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner Mohammed Faruq
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.991G>T r.(?) p.(Asp331Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000296582 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq