Variant #0000001722 (NC_000017.10:g.15142892G>A, PMP22(NM_000304.3):c.215C>T)

Individual ID 00001722
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.15142892G>A
Reference Roa BB1, Dyck PJ, Marks HG, Chance PF, Lupski JR.(1993)
DB-ID PMP22_000009
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
PMP22 NM_000304.3 ./. 4 c.215C>T r.(?) p.(Ser72Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001722 ? ? PMP22 1 Y Yang