Variant #0000001777 (NC_000001.10:g.161276654_161276657delGCTC, MPZ(NM_000530.6):c.289_292delGAGC)

Individual ID 00001777
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.161276654_161276657delGCTC
Reference Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Seeman P.(2010)
DB-ID MPZ_000045
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.289_292delGAGC r.(?) p.(Glu97Alafs*5) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001777 ? ? MPZ 1 Y Yang