Variant #0000664182 (NC_000017.10:g.15142922A>C, PMP22(NM_000304.3):c.185T>G)

Individual ID 00300084
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.15142922A>C
DNA change (hg38) g.15239605A>C
Published as -
ISCN -
DB-ID PMP22_000088 See all 2 reported entries
Variant remarks -
Reference PubMed: Antoniadi 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMP22 NM_000304.3 +?/. - c.185T>G r.(?) p.(Leu62Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000301200 DNA SEQ - 56-gene neuropathy panel MED25, PMP22 2 Johan den Dunnen