Variant #0000005592 (NC_000001.10:g.161276551G>A, MPZ(NM_000530.6):c.395C>T)

Individual ID 00005605
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.161276551G>A
Reference Drac H et al. (2011)
DB-ID MPZ_000050
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
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 ./. 3 c.395C>T r.(?) p.(Pro132Leu) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005617 ? ? MPZ 1 XY Liu