Variant #0000395153 (NC_000022.10:g.38536143G>A, PLA2G6(NM_003560.2):c.643C>T)

Individual ID 00174391
Chromosome 22
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.38536143G>A
DNA change (hg38) g.38140136G>A
Published as -
ISCN -
DB-ID PLA2G6_000146
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner IMGAG
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by IMGAG
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLA2G6 NM_003560.2 +/. - c.643C>T r.(?) p.(Gln215*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000175282 DNA SEQ - - - 1 IMGAG