Variant #0000001717 (NC_000017.10:g.15142908C>G, PMP22(NM_000304.3):c.199G>C)

Individual ID 00001717
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.15142908C>G
Reference Kousseff BG, Hadro TA, Treiber DL, Wollner T, Morris C.(1982)
DB-ID PMP22_000004
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 ./. 4 c.199G>C r.(?) p.(Ala67Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001717 ? ? PMP22 1 Y Yang