Variant #0000728168 (NC_000022.10:g.38522457C>T, PLA2G6(NM_003560.2):c.1349-1G>A)

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.38522457C>T
DNA change (hg38) -
Published as PLA2G6(NM_003560.2):c.1349-1G>A
ISCN -
DB-ID PLA2G6_000150
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLA2G6 NM_003560.2 +/. - c.1349-1G>A r.spl? p.?