Variant #0000001763 (NC_000001.10:g.161275743C>A, MPZ(NM_000530.6):c.670G>T)

Individual ID 00001763
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.161275743C>A
Reference Fabrizi GM1, Pellegrini M, Angiari C, Cavallaro T, Morini A, Taioli F, Cabrini I, Orrico D, Rizzuto N.(2006)
DB-ID MPZ_000031
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 ./. 6 c.670G>T r.(?) p.(Asp224Tyr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001763 ? ? MPZ 1 Y Yang