Variant #0000664125 (NC_000017.10:g.(?_15133094)_(15168674_?)dup, PMP22(NM_000304.3):c.-238_*1140{2})

Individual ID 00300114
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_15133094)_(15168674_?)dup
DNA change (hg38) g.(?_15229777)_(15265357_?)dup
Published as c.(?_-1)_(*1_?)dup
ISCN -
DB-ID PMP22_000101 See all 15 reported entries
Variant remarks -
Reference PubMed: Antoniadi 2015
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 +/. _1_5_ c.-238_*1140{2} r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000301230 DNA SEQ - 56-gene neuropathy panel PMP22, SH3TC2 2 Johan den Dunnen