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.

59 entries on 1 page. Showing entries 1 - 59.
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     
+/. 17i c.1898+1G>A r.1408_1898del p.Met470Leufs*16 Parent #1 - pathogenic g.22284590G>A g.22263044G>A IVS17+1G>A - ANO5_000033 - PubMed: Wahbi 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - hCK - PubMed: Wahbi 2012 - M - France - - - - - 1 Johan den Dunnen
+?/. 17i c.1898+1G>A r.spl? p.(fs*?) Parent #2 - likely pathogenic g.22284590G>A g.22263044G>A - - ANO5_000033 - - - - Germline - - - - - DNA PCR, SEQ - - MPD - - - M - United States white - - - - 1 Tom Winder
+/. - c.1898+1G>A r.spl? p.? Unknown - pathogenic g.22284590G>A g.22263044G>A ANO5(NM_001142649.1):c.1895+1G>A (p.?), ANO5(NM_001142649.2):c.1895+1G>A, ANO5(NM_213599.2):c.1898+1G>A, ANO5(NM_213599.3):c.1898+1G>A - ANO5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1898+1G>A r.spl? p.? Unknown - pathogenic g.22284590G>A g.22263044G>A ANO5(NM_001142649.1):c.1895+1G>A (p.?), ANO5(NM_001142649.2):c.1895+1G>A, ANO5(NM_213599.2):c.1898+1G>A, ANO5(NM_213599.3):c.1898+1G>A - ANO5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1898+1G>A r.spl? p.? Unknown - pathogenic g.22284590G>A g.22263044G>A ANO5(NM_001142649.1):c.1895+1G>A (p.?), ANO5(NM_001142649.2):c.1895+1G>A, ANO5(NM_213599.2):c.1898+1G>A, ANO5(NM_213599.3):c.1898+1G>A - ANO5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1898+1G>A r.spl? p.? Unknown - pathogenic g.22284590G>A g.22263044G>A ANO5(NM_001142649.1):c.1895+1G>A (p.?), ANO5(NM_001142649.2):c.1895+1G>A, ANO5(NM_213599.2):c.1898+1G>A, ANO5(NM_213599.3):c.1898+1G>A - ANO5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 17i c.1898+1G>A r.spl p.? Parent #1 - pathogenic g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 17i c.1898+1G>A r.spl p.? Parent #1 - pathogenic g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 17i c.1898+1G>A r.spl p.? Parent #1 - pathogenic g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 17i c.1898+1G>A r.spl p.? Parent #1 - pathogenic g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 17i c.1898+1G>A r.spl p.? Parent #1 - pathogenic g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 17i c.1898+1G>A r.spl p.? Parent #1 - pathogenic g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 17i c.1898+1G>A r.spl p.? Parent #1 - pathogenic g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 17i c.1898+1G>A r.spl p.? Parent #1 - pathogenic g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.1898+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD ? PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.(?) Unknown ACMG pathogenic g.22284590G>A g.22263044G>A - - ANO5_000033 ACMG grading: PM3,PP3,PVS1,PS3; variant reported in Linssen 2013. Eur 20: 968; Wahbi 2013. Int J Cardiol 168: 76; Witting 2013. J Neurol 260: 2084 - - rs142027093 Germline - - - - - DNA SEQ-NG-S - - - - - - M - - - - - - - 1 Andreas Laner
+/. 17i c.1898+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Evilä 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - MyoCap 180 myopathy gene panel MYOP P1 PubMed: Evilä 2016 - - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.1898+1G>A r.spl? p.? Parent #1 - pathogenic g.22284590G>A g.22263044G>A - - ANO5_000033 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142027093 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/. - c.1898+1G>A r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P170 PubMed: Yu 2017 analysis 180 LGMD patients M - China - - - - - 1 Johan den Dunnen
+/. - c.1898+1G>A r.spl? p.? Unknown - pathogenic g.22284590G>A - ANO5(NM_001142649.1):c.1895+1G>A (p.?), ANO5(NM_001142649.2):c.1895+1G>A, ANO5(NM_213599.2):c.1898+1G>A, ANO5(NM_213599.3):c.1898+1G>A - ANO5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 17i c.1898+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Vazquez 2020 - - Germline yes - - - - DNA SEQ - - MYOP Pat2 PubMed: Vazquez 2020 sister F - France - - - - - 1 Johan den Dunnen
+/. 17i c.1898+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Vazquez 2020 - - Germline yes - - - - DNA SEQ - - MYOP Pat1 PubMed: Vazquez 2020 2-generation family, 2 affected sisters F - France - - - - - 2 Johan den Dunnen
+/. - c.1898+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Liewluck 2013 - - Germline - - - - - DNA SEQ - - MYOP Pat5 PubMed: Liewluck 2013 2-generation family, 2 affected brothers M - United States - - - - - 2 Johan den Dunnen
+/. - c.1898+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.22284590G>A - - - ANO5_000033 - PubMed: Schröder 2013 - - Germline - - - - - DNA SEQ - - LGMD ANO5-Pat3 PubMed: Schröder 2013 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.1898+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 2-generation family, 3 affected (2F, M) M - Netherlands - - - - - 3 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 sister F - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 sister F - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline yes - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 2-generation family, 2 affected brothers M - Netherlands - - - - - 2 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline yes - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 brother M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline yes - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 2-generation family, 3 affected (2F, M) F - Netherlands - - - - - 3 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline yes - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 sister F - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline yes - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 brother M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.1898+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+?/. - c.1898+1G>A r.spl p.? Unknown - likely pathogenic g.22284590G>A g.22263044G>A - - ANO5_000033 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
+/. - c.1898+1G>A r.spl? p.? Unknown - pathogenic g.22284590G>A - ANO5(NM_001142649.1):c.1895+1G>A (p.?), ANO5(NM_001142649.2):c.1895+1G>A, ANO5(NM_213599.2):c.1898+1G>A, ANO5(NM_213599.3):c.1898+1G>A - ANO5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1898+1G>A r.spl? p.? Unknown - pathogenic g.22284590G>A - ANO5(NM_001142649.1):c.1895+1G>A (p.?), ANO5(NM_001142649.2):c.1895+1G>A, ANO5(NM_213599.2):c.1898+1G>A, ANO5(NM_213599.3):c.1898+1G>A - ANO5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1898+1G>A r.spl p.? Maternal (confirmed) - pathogenic g.22284590G>A g.22263044G>A - - ANO5_000033 no variant 2nd chromosome PubMed: Cavdarli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel NMD U22 PubMed: Cavdarli 2023 analysis 146 neuromuscular disease patients, unsolved M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.1898+1G>A r.spl p.? Maternal (confirmed) - pathogenic g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Cavdarli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 47-gene panel MD U22 PubMed: Cavdarli 2023 analysis 67 patients muscular dystrophy/myopathy (not DMD) M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.1898+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.22284590G>A g.22263044G>A - - ANO5_000033 - PubMed: Westra 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NMD Pat4 PubMed: Westra 2019 - F - - - - - - - 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.