Variant #0000454995 (NC_000017.10:g.(?_15133094)_(15168674_?)del, PMP22(NM_000304.3):c.-238_*1140{0})

Individual ID 00219030
Chromosome 17
Allele Parent #1
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_?)del
DNA change (hg38) g.(?_15229777)_(15265357_?)del
Published as deletion entire gene
ISCN -
DB-ID PMP22_000100 See all 5 reported entries
Variant remarks -
Reference PubMed: Dohrn 2017, Journal: Dohrn 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/612 cases
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{0} r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000220102 DNA SEQ;SEQ-NG;MLPA - targeted multigene panel PMP22 1 Johan den Dunnen