All variants in the APOO gene

Information The variants shown are described using the NM_024122.4 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. - c.350T>C r.350u>c p.Ile117Thr - likely pathogenic g.23886748A>G g.23868631A>G - - APOO_000011 - PubMed: Beninca 2021 - - Germline yes - - 0 skewed X-inactivation in symptomatic females Johan den Dunnen
Legend   How to query