Variant #0000560327 (NC_000017.10:g.15142945C>T, PMP22(NM_000304.3):c.179-17G>A)

Chromosome 17
Allele Unknown
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.15142945C>T
DNA change (hg38) g.15239628C>T
Published as PMP22(NM_001281456.2):c.179-17G>A
ISCN -
DB-ID PMP22_000107
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00597 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.179-17G>A r.(=) p.(=)