Variant #0000443247 (NC_000017.10:g.15164026_15164027del, PMP22(NM_000304.3):c.19_20del)

Individual ID 00210570
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.15164026_15164027del
DNA change (hg38) g.15260709_15260710del
Published as 19_20delAG
ISCN -
DB-ID PMP22_000008
Variant remarks -
Reference PubMed: Nicholson 1994
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.19_20del r.(?) p.(Ser7Tyrfs*30)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211646 DNA SEQ - - PMP22 1 Johan den Dunnen