Variant #0000443303 (NC_000017.10:g.15163977G>C, PMP22(NM_000304.3):c.68C>G)

Individual ID 00210626
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.15163977G>C
DNA change (hg38) g.15260660G>C
Published as -
ISCN -
DB-ID PMP22_000064 See all 3 reported entries
Variant remarks -
Reference PubMed: Joo 2004
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.68C>G r.(?) p.(Thr23Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211702 DNA SEQ - - PMP22 1 Johan den Dunnen