Variant #0000256251 (NC_000022.10:g.38525541A>C, PLA2G6(NM_003560.2):c.1106T>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.38525541A>C
DNA change (hg38) g.38129534A>C
Published as PLA2G6(NM_003560.2):c.1106T>G (p.L369R)
ISCN -
DB-ID PLA2G6_000118
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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.1106T>G r.(?) p.(Leu369Arg)