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

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
Date created 2021-07-14 09:34:42 +08:00 (CST)
Date last edited 2021-09-12 15:12:07 +08:00 (CST)
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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