Variant #0000736636 (NC_000022.10:g.38565325G>A, PLA2G6(NM_003560.2):c.109C>T)

Individual ID 00335840
Chromosome 22
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.38565325G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID PLA2G6_000014 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner Ivano Di Meo
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Ivano Di Meo
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLA2G6 NM_003560.2 +/. 2 c.109C>T r.(?) p.(Arg37*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000337070 DNA;RNA RT-PCR;RT-PCRq;SEQ;SEQ-NG Skin fibroblasts, blood - PLA2G6 2 Ivano Di Meo