Variant #0000658953 (NC_000022.10:g.38525570C>T, PLA2G6(NM_003560.2):c.1078-1G>A)

Chromosome 22
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.38525570C>T
DNA change (hg38) g.38129563C>T
Published as PLA2G6(NM_001004426.1):c.1078-1G>A (p.?)
ISCN -
DB-ID PLA2G6_000170
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) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license No license selected
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLA2G6 NM_003560.2 +?/. - c.1078-1G>A r.spl? p.?