Variant #0000001733 (NC_000001.10:g.161275924_161275925insA, MPZ(NM_000530.6):c.618_619insT)

Individual ID 00001733
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.161275924_161275925insA
Reference Zschüntzsch J1, Dibaj P, Pilgram S, K?tting J, Gerding WM, Neusch C.(2009)
DB-ID MPZ_000046
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     
MPZ NM_000530.6 ./. 5 c.618_619insT r.(?) p.(Lys207*) VariO:0142 DNA insertion VariO:0015 protein truncation



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001733 ? ? MPZ 1 Y Yang