Variant #0000003053 (NC_000023.11:g.17862G>A, PLP1(NM_000533.5):c.736G>A)

Individual ID 00000782
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.17862G>A
Published as -
Reference DOI:Ahmad Izani Mohd Safian et al.(2021):10.51407/mjpch.v27i1.129
DB-ID PLP1_000001
dbSNP ID rs547302858
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
PLP1 NM_000533.5 +/. - c.736G>A - r.(?) p.(Gly246Arg) Likely Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000876 ? ? PLP1 1 Nur Aisyah Athirah