Variant #0000002664 (NC_000022.11:g.38112531C>T, PLA2G6(NM_003560.4):c.2249G>A)

Individual ID 00000598
Chromosome 22
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.38112531C>T
Published as -
Reference Limin Li et al.(2020)
DB-ID PLA2G6_000001 See all 2 reported entries
dbSNP ID rs751225193
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
PLA2G6 NM_003560.4 +/. - c.2249G>A - r.(?) p.(Cys750Tyr) Likely Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000664 DNA SEQ PLA2G6 2 Nur Aisyah Athirah