Variant #0000001727 (NC_000017.10:g.15142830_15142831insCCCCCC, PMP22(NM_000304.3):c.276_277insGGGGGG)

Individual ID 00001727
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.15142830_15142831insCCCCCC
Reference Lenssen PP1, Gabre?ls-Festen AA, Valentijn LJ, Jongen PJ, van Beersum SE, van Engelen BG, van Wensen PJ, Bolhuis PA, Gabre?ls FJ, Mariman EC.(1998)
DB-ID PMP22_000014
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
PMP22 NM_000304.3 ./. 5 c.276_277insGGGGGG r.(?) p.(Gly93_Gly94dup) VariO:0142 DNA insertion VariO:0020 sequence retaining amino acid insertion



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001727 ? ? PMP22 1 Y Yang