Variant #0000001719 (NC_000017.10:g.15162479T>A, PMP22(NM_000304.3):c.110A>T)

Individual ID 00001719
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.15162479T>A
Reference Fabrizi GM1, Cavallaro T, Taioli F, Orrico D, Morbin M, Simonati A, Rizzuto N.(1999)
DB-ID PMP22_000006
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
PMP22 NM_000304.3 ./. 3 c.110A>T r.(?) p.(Asp37Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001719 ? ? PMP22 1 Y Yang