Variant #0000001739 (NC_000001.10:g.161276676G>T, MPZ(NM_000530.6):c.270C>A)

Individual ID 00001739
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.161276676G>T
Reference Hayasaka K1, Himoro M, Sato W, Takada G, Uyemura K, Shimizu N, Bird TD, Conneally PM, Chance PF.(1993)
DB-ID MPZ_000007 See all 2 reported entries
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 ./. 3 c.270C>A r.(?) p.(Asp90Glu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001739 ? ? MPZ 1 Y Yang