Variant #0000443244 (NC_000017.10:g.15162459_15162460del, PMP22(NM_000304.3):c.130_131del)

Individual ID 00210567
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.15162459_15162460del
DNA change (hg38) g.15259142_15259143del
Published as 130_131delAC
ISCN -
DB-ID PMP22_000005
Variant remarks -
Reference PubMed: Taioli 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMP22 NM_000304.3 +/. 2 c.130_131del r.(?) p.(Thr44Leufs*178)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211643 DNA SEQ - - PMP22 1 Johan den Dunnen