Variant #0000693196 (NC_000022.10:g.38565282G>C, PLA2G6(NM_003560.2):c.152C>G)

Chromosome 22
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.38565282G>C
DNA change (hg38) -
Published as PLA2G6(NM_001349864.2):c.152C>G (p.P51R)
ISCN -
DB-ID PLA2G6_000179
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_AMC
Database submission license No license selected
Created by VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLA2G6 NM_003560.2 ?/. - c.152C>G r.(?) p.(Pro51Arg)