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.

4 entries on 1 page. Showing entries 1 - 4.
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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     
?/. 9 c.817C>T r.(?) p.(Leu273Phe) - VUS g.22261169C>T g.22239623C>T - - ANO5_000160 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 9 c.817C>T r.(?) p.(Leu273Phe) - pathogenic (recessive) g.22261169C>T g.22239623C>T - - ANO5_000160 - PubMed: Magri 2015 - - Germline - - - 0 - Johan den Dunnen
+/. - c.817C>T r.(?) p.(Leu273Phe) - pathogenic (recessive) g.22261169C>T g.22239623C>T - - ANO5_000160 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+?/. - c.817C>T r.(?) p.(Leu273Phe) - likely pathogenic g.22261169C>T g.22239623C>T - - ANO5_000160 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - Johan den Dunnen
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