Variant #0000658956 (NC_000022.10:g.38531001G>A, PLA2G6(NM_003560.2):c.888C>T)

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.38531001G>A
DNA change (hg38) g.38134994G>A
Published as PLA2G6(NM_001349867.1):c.354C>T (p.N118=)
ISCN -
DB-ID PLA2G6_000173
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) 9.0E-5 View details
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.888C>T r.(?) p.(Asn296=)