Full data view for gene ABCA12

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

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

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Technique     

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Disease     

ID_report     

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Owner     
+/. 49 c.7323del r.(?) p.(Val2442Serfs*22) Both (homozygous) - pathogenic g.215809746del g.214945022del 7541delC - ABCA12_000002 - PubMed: Kelsell 2005 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Kelsell 2005 5-generation family, 7 affecteds (5F, 2M), unaffected carrier parents and sibs - yes United Kingdom (Great Britain) Pakistani >20y 0 - - 7 Marianne Vos (LOVD-team)
+/. 49 c.7323del r.(?) p.(Val2442Serfs*22) Both (homozygous) - pathogenic g.215809746del g.214945022del 7541delC - ABCA12_000002 - PubMed: Kelsell 2005 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Kelsell 2005 - - - United Kingdom (Great Britain) India >8y 0 - - 1 Marianne Vos (LOVD-team)
+/. 49 c.7323del r.(?) p.(Val2442Serfs*22) Both (homozygous) - pathogenic g.215809746del g.214945022del 7541delC - ABCA12_000002 - PubMed: Kelsell 2005 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Kelsell 2005 - - - United Kingdom (Great Britain) Pakistani >2y 0 - - 1 Marianne Vos (LOVD-team)
+/. 49 c.7323del r.(?) p.(Val2442Serfs*22) Both (homozygous) - pathogenic g.215809746del g.214945022del 7541delC - ABCA12_000002 - PubMed: Kelsell 2005 - - Germline yes - - 0 - DNA SEQ ? - ARCI-4A - PubMed: Kelsell 2005 - - - United Kingdom (Great Britain) Pakistani 3d 0 - - 1 Marianne Vos (LOVD-team)
+/. 49 c.7323del r.(?) p.(Val2442Serfs*22) Both (homozygous) - pathogenic g.215809746del g.214945022del - - ABCA12_000002 - PubMed: Thomas 2006 - - Germline yes - - 0 - DNA DHPLC, SEQ ? - ARCI-4A - PubMed: Thomas 2006 - - - Pakistan Asian 13d 0 - - 1 Marianne Vos (LOVD-team)
+/. 49 c.7323del r.(?) p.(Val2442Serfs*22) Paternal (confirmed) - pathogenic g.215809746del g.214945022del - - ABCA12_000002 variant identified through parent PubMed: Thomas 2008 - - Germline yes - - 0 - DNA SEQ blood - ARCI-4A - PubMed: Thomas 2008 variant detected in unaffected carrier parents - - United Kingdom (Great Britain) Pakistani - 0 - - 1 Marianne Vos (LOVD-team)
+/. 49 c.7323del r.(?) p.(Val2442Serfs*22) Maternal (confirmed) - pathogenic g.215809746del g.214945022del - - ABCA12_000002 variant identified through parent PubMed: Thomas 2008 - - Germline yes - - 0 - DNA SEQ blood - ARCI-4A - PubMed: Thomas 2008 variant detected in unaffected carrier parents - - United Kingdom (Great Britain) Pakistani - 0 - - 1 Marianne Vos (LOVD-team)
+/. 49 c.7323del r.(?) p.(Val2442Serfs*22) Both (homozygous) - pathogenic g.215809746del g.214945022del - - ABCA12_000002 - PubMed: Thomas 2008 - - Germline yes - - 0 - DNA SEQ blood - ARCI-4A - PubMed: Thomas 2008 - - - United Kingdom (Great Britain) Pakistani - 0 - - 1 Marianne Vos (LOVD-team)
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