All variants in the ABCA9 gene

Information The variants shown are described using the NM_080283.3 transcript reference sequence.

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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.4035_4037del r.(?) p.(Thr1346del) - VUS g.66985179_66985181del g.68989038_68989040del - - ABCA9_000003 - PubMed: Kiselev 2019 - rs755035315 Germline - - - 0 - Johan den Dunnen
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