Variant #0000001753 (NC_000001.10:g.161277151G>A, MPZ(NM_000530.6):c.131C>T)

Individual ID 00001753
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.161277151G>A
Reference Marrosu MG1, Vaccargiu S, Marrosu G, Vannelli A, Cianchetti C, Muntoni F.(1998)
DB-ID MPZ_000021
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 ./. 2 c.131C>T r.(?) p.(Ser44Phe) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001753 ? ? MPZ 1 Y Yang