Variant #0000194176 (NC_000022.10:g.38536067G>A, PLA2G6(NM_003560.2):c.719C>T)

Individual ID 00117673
Chromosome 22
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.38536067G>A
DNA change (hg38) g.38140060G>A
Published as -
ISCN -
DB-ID PLA2G6_000071
Variant remarks Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message.
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Danielle Crompton
Database submission license No license selected
Created by Danielle Crompton
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLA2G6 NM_003560.2 +/+ 5 c.719C>T r.(?) p.(L240P)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000118136 DNA SEQ - - PLA2G6 2 Johan den Dunnen