All variants in the ANO5 gene

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
Information The variants shown are described using the NM_213599.2 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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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     
+/. 8 c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T - - ANO5_000005 - - - - Germline - - - 0 - Tom Winder
+/. 8 c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T - - ANO5_000005 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T - - ANO5_000005 - PubMed: Sarkozy 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T - - ANO5_000005 not in 210 control chromosomes PubMed: Bolduc 2010, OMIM:var0005 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T - - ANO5_000005 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T - - ANO5_000005 - PubMed: Penttila 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T - - ANO5_000005 - PubMed: Penttila 2012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T ANO5(NM_213599.2):c.692G>T (p.G231V, p.(Gly231Val)) - ANO5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T ANO5(NM_213599.2):c.692G>T (p.G231V, p.(Gly231Val)) - ANO5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. 8 c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T - - ANO5_000005 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 8 c.692G>T r.(?) p.(Gly231Val) - VUS g.22257752G>T g.22236206G>T - - ANO5_000005 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 8 c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T - - ANO5_000005 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 8 c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T - - ANO5_000005 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 8 c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T - - ANO5_000005 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 8 c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T - - ANO5_000005 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 8 c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T - - ANO5_000005 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 8 c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T - - ANO5_000005 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 8 c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T - - ANO5_000005 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 8 c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T - - ANO5_000005 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 8 c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T - - ANO5_000005 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 8 c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T - - ANO5_000005 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 8 c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T - - ANO5_000005 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 8 c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T - - ANO5_000005 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 8 c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T - - ANO5_000005 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 8 c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T - - ANO5_000005 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 8 c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T - - ANO5_000005 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 8 c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T - - ANO5_000005 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 8 c.692G>T r.(?) p.(Gly231Val) - pathogenic g.22257752G>T g.22236206G>T - - ANO5_000005 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+?/. - c.692G>T r.(?) p.(Gly231Val) - likely pathogenic g.22257752G>T g.22236206G>T ANO5(NM_213599.2):c.692G>T (p.G231V, p.(Gly231Val)) - ANO5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.692G>T r.(?) p.(Gly231Val) - likely pathogenic g.22257752G>T g.22236206G>T ANO5(NM_213599.2):c.692G>T (p.G231V, p.(Gly231Val)) - ANO5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.692G>T r.(?) p.(Gly231Val) - likely pathogenic (recessive) g.22257752G>T g.22236206G>T - - ANO5_000005 - PubMed: Vazquez 2020 - - Germline - - - 0 - Johan den Dunnen
+/. - c.692G>T r.(?) p.(Gly231Val) - pathogenic (recessive) g.22257752G>T g.22236206G>T - - ANO5_000005 - PubMed: Liewluck 2013 - - Germline - - - 0 - Johan den Dunnen
+/. - c.692G>T r.(?) p.(Gly231Val) - pathogenic (recessive) g.22257752G>T g.22236206G>T - - ANO5_000005 - PubMed: Liewluck 2013 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.692G>T r.(?) p.(Gly231Val) - likely pathogenic (recessive) g.22257752G>T - NM_00114264:689G>T (Gly230Val) - ANO5_000005 - PubMed: Nicolau 2020 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.692G>T r.(?) p.(Gly231Val) - pathogenic (recessive) g.22257752G>T g.22236206G>T - - ANO5_000005 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+/. - c.692G>T r.(?) p.(Gly231Val) - pathogenic (recessive) g.22257752G>T g.22236206G>T - - ANO5_000005 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+/. - c.692G>T r.(?) p.(Gly231Val) - pathogenic (recessive) g.22257752G>T g.22236206G>T - - ANO5_000005 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+/. - c.692G>T r.(?) p.(Gly231Val) - pathogenic (recessive) g.22257752G>T g.22236206G>T - - ANO5_000005 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+?/. - c.692G>T r.(?) p.(Gly231Val) - likely pathogenic g.22257752G>T g.22236206G>T - - ANO5_000005 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - 0 - Johan den Dunnen
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