Variant #0000063697 (NC_000017.10:g.15162389T>C, PMP22(NM_000304.3):c.178+22A>G)

Individual ID 00036502
Chromosome 17
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.15162389T>C
DNA change (hg38) g.15259072T>C
Published as -
ISCN -
DB-ID PMP22_000071 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs231020
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.53937 View details
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMP22 NM_000304.3 -/. - c.178+22A>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000036572 DNA SEQ - - PMP22 1 Andreas Laner