Variant #0000247484 (NC_000017.10:g.15142922A>C, PMP22(NM_000304.3):c.185T>G)

Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.15142922A>C
DNA change (hg38) g.15239605A>C
Published as PMP22(NM_000304.3):c.185T>G (p.L62R)
ISCN -
DB-ID PMP22_000088 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner VKGL-NL_AMC
Database submission license No license selected
Created by VKGL-NL_AMC
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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)