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.

25 entries on 1 page. Showing entries 1 - 25.
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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     
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - - - - Germline - - - 0 - Tom Winder
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - - - - Germline - - - 0 - Tom Winder
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Witting 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 not in 408 control chromosomes PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+?/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic (recessive) g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Punetha 2016 - - Germline - - - 0 - Jaya Punetha
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Witting 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Witting 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 not in 408 control chromosomes PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 not in 408 control chromosomes PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 not in 408 control chromosomes PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Schessl 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - - - - Germline - - - 0 - Tom Winder
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - - - - Germline - - - 0 - Tom Winder
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - - - - Germline - - - 0 - Tom Winder
+?/. - c.172C>T r.(?) p.(Arg58Trp) - likely pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 consistent with diagnosis muscular dystrophy PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 4 c.172C>T r.(?) p.(Arg58Trp) - VUS g.22239825C>T g.22218279C>T - - ANO5_000039 variant apparently homozygous; no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.172C>T r.(?) p.(Arg58Trp) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. - c.172C>T r.(?) p.(Arg58Trp) ACMG pathogenic g.22239825C>T g.22218279C>T NM_001142649:c.169C>T - ANO5_000039 ACMG PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4 PubMed: Monies 2016 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.172C>T r.(?) p.(Arg58Trp) - likely pathogenic (recessive) g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Vazquez 2020 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.172C>T r.(?) p.(Arg58Trp) - likely pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 combination of variants not reported PubMed: Topf 2020 - - Germline - 3/1001 cases - 0 - Johan den Dunnen
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