Variant #0000001736 (NC_000001.10:g.161276701T>C, MPZ(NM_000530.6):c.245A>G)

Individual ID 00001736
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.161276701T>C
Reference Nelis E1, Timmerman V, De Jonghe P, Muylle L, Martin JJ, Van Broeckhoven C.(1994)
DB-ID MPZ_000004
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
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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.245A>G r.(?) p.(Tyr82Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001736 ? ? MPZ 1 Y Yang