Variant #0000560329 (NC_000017.10:g.15151438G>A, PMP22(NM_000304.3):c.179-8510C>T)

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.15151438G>A
DNA change (hg38) g.15248121G>A
Published as PMP22(NM_000304.2):c.179-8510C>T
ISCN -
DB-ID PMP22_000109
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) Variant not found in online data sets
Owner VKGL-NL_AMC
Database submission license No license selected
Created by VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMP22 NM_000304.3 -?/. - c.179-8510C>T r.(=) p.(=)