Variant #0000624306 (NC_000022.10:g.38565262C>T, PLA2G6(NM_003560.2):c.172G>A)

Chromosome 22
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.38565262C>T
DNA change (hg38) g.38169255C>T
Published as PLA2G6(NM_001349864.2):c.172G>A (p.V58I), PLA2G6(NM_003560.2):c.172G>A (p.V58I)
ISCN -
DB-ID PLA2G6_000138 See all 2 reported entries
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) 0.00352 View details
Owner VKGL-NL_AMC
Database submission license No license selected
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLA2G6 NM_003560.2 -/. - c.172G>A r.(?) p.(Val58Ile)