Variant #0000472283 (NC_000017.10:g.15164043A>G, PMP22(NM_000304.3):c.2T>C)

Individual ID 00229603
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.15164043A>G
DNA change (hg38) g.15260726A>G
Published as Met1Thr
ISCN -
DB-ID PMP22_000103 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Ana Merkler
Database submission license No license selected
Created by Ana Merkler
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMP22 NM_000304.3 ?/. 2 c.2T>C r.(?) p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000230695 DNA SEQ - - PMP22 1 Ana Merkler