Variant #0000667421 (NC_000022.10:g.38565343C>T, PLA2G6(NM_003560.2):c.91G>A)

Individual ID 00302903
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.38565343C>T
DNA change (hg38) g.38169336C>T
Published as -
ISCN -
DB-ID PLA2G6_000174
Variant remarks -
Reference PubMed: Seibler 2018
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00045 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLA2G6 NM_003560.2 ?/. - c.91G>A r.(?) p.(Asp31Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000304029 DNA;RNA RT-PCR;SEQ - - WDR45 2 Johan den Dunnen