Variant #0000002258 (NC_000001.11:g.161307340G>A, NM_000530.7:c.152C>T (MPZ))

Individual ID 00000481
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.161307340G>A
Published as -
Reference Nortina Shahrizaila et al. (2014), dbSNP, ClinVar
DB-ID MPZ_000001
dbSNP ID rs1553259790
Frequency 1/18
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2021-03-03 15:52:34 +08:00 (CST)
Date last edited 2021-08-01 13:14:30 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
MPZ NM_000530.7 +/. - c.152C>T - r.(?) p.(Ser51Phe) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000527 DNA PCR;SEQ MPZ 1 Nuur Athirah Binti Mohd Daud