Variant #0000814852 (NC_000023.10:g.77096808A>C, MAGT1(NM_032121.5):c.932T>G)

Individual ID 00385773
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.77096808A>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID MAGT1_000013 See all 2 reported entries
Variant remarks gene reported as IAP
Reference PubMed: Molinari 2008
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-10-15 10:31:56 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MAGT1 NM_032121.5 +/. - c.932T>G r.(?) p.(Val311Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000387001 DNA SEQ - - XIAP 1 Johan den Dunnen