Variant #0000001728 (NC_000017.10:g.15142855_15142857delGAA, PMP22(NM_000304.3):c.250_252delTTC)

Individual ID 00001728
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.15142855_15142857delGAA
Reference Yener GG1, Guiochon-Mantel A, Obuz F, Baklan B, Oztürk V, Kovanlikaya I, Cakmur R, Gen? A.(2001)
DB-ID PMP22_000015
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
Options




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.250_252delTTC r.(?) p.(Phe84del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001728 ? ? PMP22 1 Y Yang