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     
+/. 30 c.4541G>A r.(?) p.(Arg1514His) - pathogenic g.215846949C>T g.214982225C>T Arg1514His - ABCA12_000052 no variant found 2nd chromosome PubMed: Sakai 2009 - - Germline ? - - 0 - Marianne Vos (LOVD-team)
+/. 30 c.4541G>A r.(?) p.(Arg1514His) - pathogenic g.215846949C>T g.214982225C>T - - ABCA12_000052 - PubMed: Lefevre 2003 - - Germline yes - - 0 - Marianne Vos (LOVD-team)
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