Full data view for gene ANO5

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.

57 entries on 1 page. Showing entries 1 - 57.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Parent #1 - pathogenic g.22296151C>T g.22274605C>T R758Cys - ANO5_000006 - Fichna ESHG2016 P10.20 - - Germline - 1/82 cases LGMD - - - DNA SEQ, SEQ-NG - - GDD - Fichna ESHG2016 P10.20 - - no Poland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Paternal (confirmed) - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 not in 308 conrol chromosomes PubMed: Bolduc 2010, OMIM:var0006 - - Germline - - - - - DNA SEQ - - MMD3 - PubMed: Jaiswal 2007, PubMed: Mahjneh 2010 family 2 affected brothers M - Finland - >44y - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Paternal (confirmed) - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 not in 308 conrol chromosomes PubMed: Bolduc 2010, OMIM:var0006 - - Germline - - - - - DNA SEQ - - MMD3 - PubMed: Jaiswal 2007, PubMed: Mahjneh 2010 family 2 affected brothers M - Finland - >50y - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Paternal (confirmed) - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Hicks 2011 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Hicks 2011 - M - Germany - >35y - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Paternal (inferred) - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - MPD - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - - Finland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Paternal (inferred) - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - ? - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - F - Finland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Paternal (inferred) - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - MPD - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - - Finland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Paternal (inferred) - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - MPD - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - - Finland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Paternal (inferred) - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - MPD - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - - Finland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Paternal (inferred) - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - MPD - Penttila WMS2010 P1.26, PubMed: Penttila 2012 family, 3 affecteds M - United States German - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Paternal (inferred) - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - MPD - Penttila WMS2010 P1.26, PubMed: Penttila 2012 family, 3 affecteds M - United States German - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Paternal (inferred) - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - MPD - Penttila WMS2010 P1.26, PubMed: Penttila 2012 family, 3 affecteds M - United States German - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Paternal (inferred) - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - MPD - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - - Finland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Parent #1 - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - MPD - PubMed: Penttila 2012 - - - Finland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Parent #1 - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - hCK - PubMed: Penttila 2012 - F - Finland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Parent #1 - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - hCK - PubMed: Penttila 2012 - F - Finland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Parent #1 - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - MPD - PubMed: Penttila 2012 - - - Finland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Parent #1 - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - MPD - PubMed: Penttila 2012 - - - Finland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Parent #1 - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - MPD - PubMed: Penttila 2012 - - - Finland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Parent #1 - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - MPD - PubMed: Penttila 2012 - F - Finland - - - - - 1 Johan den Dunnen
?/. 20 c.2272C>T r.(?) p.(Arg758Cys) Unknown - VUS g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Bolduc 2010, Penttila WMS2010 P1.26 - - Germline - 2/578 - - - DNA SEQ - - Healthy/Control - PubMed: Bolduc 2010, Penttila WMS2010 P1.26 - - - Finland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Parent #1 - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - MPD - PubMed: Penttila 2012 - - - Finland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Parent #1 - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - MPD - PubMed: Penttila 2012 - - - Finland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Parent #1 - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - MPD - PubMed: Penttila 2012 - - - Finland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Parent #1 - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - MPD - PubMed: Penttila 2012 - - - Finland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Parent #2 - pathogenic g.22296151C>T g.22274605C>T R758C - ANO5_000006 - PubMed: Deschauer 2011 - - Germline - - - - - DNA SEQ - - MD - PubMed: Sarkozy 2012 - M - Germany - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Parent #2 - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Sarkozy 2012 - - Germline - - - - - DNA SEQ - - LGMDR12;LGMD2L - PubMed: Sarkozy 2012 - M - Germany - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Parent #2 - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - MPD - PubMed: Penttila 2012 - - - Finland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Parent #2 - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - hCK - PubMed: Penttila 2012 - F - Finland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Parent #2 - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - hCK - PubMed: Penttila 2012 - F - Finland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Maternal (inferred) - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - MPD - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - - Finland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Maternal (inferred) - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - ? - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - F - Finland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Maternal (inferred) - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - MPD - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - - Finland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Maternal (inferred) - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - MPD - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - - Finland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Maternal (inferred) - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - Germline - - - - - DNA SEQ - - MPD - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - - Finland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Maternal (confirmed) - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 not in 308 conrol chromosomes PubMed: Bolduc 2010, OMIM:var0006 - - Germline - - - - - DNA SEQ - - MMD3 - PubMed: Jaiswal 2007, PubMed: Mahjneh 2010 family 2 affected brothers M - Finland - >44y - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Maternal (confirmed) - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 not in 308 conrol chromosomes PubMed: Bolduc 2010, OMIM:var0006 - - Germline - - - - - DNA SEQ - - MMD3 - PubMed: Jaiswal 2007, PubMed: Mahjneh 2010 family 2 affected brothers M - Finland - >50y - - - 1 Johan den Dunnen
+?/. - c.2272C>T r.(?) p.(Arg758Cys) Unknown - likely pathogenic g.22296151C>T g.22274605C>T ANO5(NM_213599.2):c.2272C>T (p.(Arg758Cys)), ANO5(NM_213599.3):c.2272C>T (p.R758C) - ANO5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2272C>T r.(?) p.(Arg758Cys) Parent #2 ACMG pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 ACMG grading: PS3, PM2, PM4, PP2, PP3; additional variants in NEB, DES, TTN PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat20 PubMed: Fichna 2018 - M - Poland - - - - - 1 Johan den Dunnen
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Parent #1 - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Both (homozygous) - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Both (homozygous) - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Parent #1 - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Parent #1 - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Parent #1 - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Parent #1 - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Parent #1 - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Parent #1 - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 20 c.2272C>T r.(?) p.(Arg758Cys) Parent #1 - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.2272C>T r.(?) p.(Arg758Cys) Parent #2 - pathogenic (recessive) g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD ? PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.2272C>T r.(?) p.(Arg758Cys) Parent #1 - pathogenic g.22296151C>T g.22274605C>T - - ANO5_000006 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs137854529 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.2272C>T r.(?) p.(Arg758Cys) Unknown - pathogenic g.22296151C>T - ANO5(NM_213599.2):c.2272C>T (p.(Arg758Cys)), ANO5(NM_213599.3):c.2272C>T (p.R758C) - ANO5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2272C>T r.(?) p.(Arg758Cys) Parent #2 - pathogenic (recessive) g.22296151C>T - R578C - ANO5_000006 - PubMed: Schröder 2013 - - Germline - - - - - DNA SEQ - - LGMD ANO5-Pat1 PubMed: Schröder 2013 - - - Germany - - - - - 1 Johan den Dunnen
+?/. - c.2272C>T r.(?) p.(Arg758Cys) Maternal (confirmed) ACMG likely pathogenic (recessive) g.22296151C>T g.22274605C>T - - ANO5_000006 ACMG PP3, PP5 PubMed: Marinakis 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - clinical exome sequencing ? 9005 PubMed: Marinakis 2021 - M - Greece - - - - - 1 Jan Traeger-Synodinos
+/. - c.2272C>T r.(?) p.(Arg758Cys) Unknown - pathogenic g.22296151C>T - ANO5(NM_213599.2):c.2272C>T (p.(Arg758Cys)), ANO5(NM_213599.3):c.2272C>T (p.R758C) - ANO5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2272C>T r.(?) p.(Arg758Cys) Parent #1 - pathogenic (recessive) g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Stehlikova 2014 - - Germline - - - - - DNA SEQ - - LGMD2 LGMD-Pat88 PubMed: Stehlikova 2014 - - - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.2272C>T r.(?) p.(Arg758Cys) Parent #1 - pathogenic (recessive) g.22296151C>T g.22274605C>T - - ANO5_000006 - PubMed: Stehlikova 2014 - - Germline - - - - - DNA SEQ - - LGMD2 LGMD-Pat89 PubMed: Stehlikova 2014 - - - Czech Republic - - - - - 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.