Variant #0000731527 (NC_000023.10:g.23886748A>G, APOO(NM_024122.4):c.350T>C)

Individual ID 00332515
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.23886748A>G
DNA change (hg38) g.23868631A>G
Published as -
ISCN -
DB-ID APOO_000011
Variant remarks -
Reference PubMed: Beninca 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation skewed X-inactivation in symptomatic females
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
APOO NM_024122.4 +/. - c.350T>C r.350u>c p.Ile117Thr



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000333739 DNA;RNA RT-PCR;SEQ;SEQ-NG - WES APOO 1 Johan den Dunnen