Variant #0000001757 (NC_000001.10:g.161276512T>G, MPZ(NM_000530.6):c.434A>C)

Individual ID 00001757
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.161276512T>G
Reference Leal A1, Berghoff C, Berghoff M, Del Valle G, Contreras C, Montoya O, Hernández E, Barrantes R, Schl?tzer-Schrehardt U, Neund?rfer B, Reis A, Rautenstrauss B, Heuss D.(2003)
DB-ID MPZ_000025
Frequency -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
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     
MPZ NM_000530.6 ./. 3 c.434A>C r.(?) p.(Tyr145Ser) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001757 ? ? MPZ 1 Y Yang