All variants in the ABCA12 gene

Information The variants shown are described using the NM_173076.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 23i c.3295-2A>G r.[3295_3303del; 3295_3464del] p.[Tyr1099_Lys1101del; Tyr1099Leufs*44] - pathogenic g.215855757T>C g.214991033T>C IVS23-2A>G - ABCA12_000041 - PubMed: Akiyama 2005 - - Germline yes - - 0 - Johan den Dunnen
+/. 23i c.3295-2A>G r.spl p.? - pathogenic g.215855757T>C g.214991033T>C IVS23-2A>G - ABCA12_000041 - PubMed: Akiyama 2005 - - Germline yes - - 0 - Marianne Vos (LOVD-team)
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