All variants in the ABCA12 gene

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

7 entries on 1 page. Showing entries 1 - 7.
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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     
+/. 28 c.4139A>G r.(?) p.(Asn1380Ser) - pathogenic g.215851290T>C g.214986566T>C - - ABCA12_000055 - PubMed: Lefevre 2003 - - Germline yes - - 0 - Marianne Vos (LOVD-team)
+/. 28 c.4139A>G r.(?) p.(Asn1380Ser) - pathogenic g.215851290T>C g.214986566T>C - - ABCA12_000055 - PubMed: Lefevre 2003 - - Germline yes - - 0 - Marianne Vos (LOVD-team)
+/. 28 c.4139A>G r.(?) p.(Asn1380Ser) - pathogenic g.215851290T>C g.214986566T>C - - ABCA12_000055 - PubMed: Lefevre 2003 - - Germline yes - - 0 - Marianne Vos (LOVD-team)
+/. 28 c.4139A>G r.(?) p.(Asn1380Ser) - pathogenic g.215851290T>C g.214986566T>C - - ABCA12_000055 - PubMed: Lefevre 2003 - - Germline yes - - 0 - Marianne Vos (LOVD-team)
+/. 28 c.4139A>G r.(?) p.(Asn1380Ser) - pathogenic g.215851290T>C g.214986566T>C - - ABCA12_000055 - PubMed: Lefevre 2003 - - Germline yes - - 0 - Marianne Vos (LOVD-team)
+/. - c.4139A>G r.(?) p.(Asn1380Ser) - pathogenic g.215851290T>C g.214986566T>C ABCA12(NM_173076.2):c.4139A>G (p.N1380S) - ABCA12_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.4139A>G r.(?) p.(Asn1380Ser) - likely pathogenic g.215851290T>C g.214986566T>C ABCA12(NM_173076.2):c.4139A>G (p.N1380S) - ABCA12_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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