Variant #0000658954 (NC_000022.10:g.38528920C>G, PLA2G6(NM_003560.2):c.995G>C)

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.38528920C>G
DNA change (hg38) g.38132913C>G
Published as PLA2G6(NM_001349867.1):c.461G>C (p.C154S)
ISCN -
DB-ID PLA2G6_000171
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) 4.0E-5 View details
Owner VKGL-NL_Groningen
Database submission license No license selected
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLA2G6 NM_003560.2 ?/. - c.995G>C r.(?) p.(Cys332Ser)