Variant #0000472286 (NC_000017.10:g.15163982_15163987del, PMP22(NM_000304.3):c.59_64del)

Individual ID 00229605
Chromosome 17
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.15163982_15163987del
DNA change (hg38) g.15260665_15260670del
Published as 59_64delTCGTCT
ISCN -
DB-ID PMP22_000104 See all 2 reported entries
Variant remarks -
Reference -
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 Ana Merkler
Database submission license No license selected
Created by Ana Merkler
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMP22 NM_000304.3 +?/. 2 c.59_64del r.(?) p.(Phe20_Val21del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000230697 DNA SEQ - - PMP22 1 Ana Merkler