Variant #0000693856 (NC_000017.10:g.(?_15133094)_(15168674_?)del, PMP22(NM_000304.3):c.-238_*1140{0})

Individual ID 00311126
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_15133094)_(15168674_?)del
DNA change (hg38) g.(?_15229777)_(15265357_?)del
Published as -
ISCN -
DB-ID PMP22_000100 See all 5 reported entries
Variant remarks 1.5 Mb deletion gene
Reference PubMed: Cerino 2020
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 Mathieu Cerino
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     
0000312280 DNA SEQ;SEQ-NG - gene panel MYH7, PMP22 2 Mathieu Cerino