Variant #0000001751 (NC_000001.10:g.161277179C>T, MPZ(NM_000530.6):c.103G>A)

Individual ID 00001751
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.161277179C>T
Reference Mastaglia FL1, Nowak KJ, Stell R, Phillips BA, Edmondston JE, Dorosz SM, Wilton SD, Hallmayer J, Kakulas BA, Laing NG.(1999)
DB-ID MPZ_000019
Frequency -
Average frequency (gnomAD v.2.1.1) 0 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 ./. 2 c.103G>A r.(?) p.(Asp35Asn) 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     
0000001751 ? ? MPZ 1 Y Yang