Variant #0000002745 (NC_000008.11:g.8873G>A, PLPBP(NM_001349346.1):c.614G>A)

Individual ID 00000622
Chromosome 8
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.8873G>A
Published as -
Reference Hiroshi Shiraku et al.(2018)
DB-ID PLPBP_000001 See all 2 reported entries
dbSNP ID rs903127278
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     
PLPBP NM_001349346.1 +/. - c.614G>A - r.(?) p.(Arg205Gln) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000689 DNA PCR;SEQ PLPBP 1 Nur Aisyah Athirah