Variant #0000572051 (NC_000022.10:g.38525560C>T, PLA2G6(NM_003560.2):c.1087G>A)

Chromosome 22
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.38525560C>T
DNA change (hg38) g.38129553C>T
Published as PLA2G6(NM_003560.2):c.1087G>A (p.V363M)
ISCN -
DB-ID PLA2G6_000151
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) 1.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLA2G6 NM_003560.2 -?/. - c.1087G>A r.(?) p.(Val363Met)