Variant #0000305821 (NC_000022.10:g.38528943C>T, PLA2G6(NM_003560.2):c.972G>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.38528943C>T
DNA change (hg38) g.38132936C>T
Published as PLA2G6(NM_001349867.2):c.438G>A (p.A146=), PLA2G6(NM_003560.2):c.972G>A (p.A324=)
ISCN -
DB-ID PLA2G6_000123 See all 3 reported entries
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) 0.00277 View details
Owner VKGL-NL_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLA2G6 NM_003560.2 -?/. - c.972G>A r.(?) p.(Ala324=)