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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/. 5 c.220C>T r.(?) p.(Arg74*) Parent #1 - pathogenic g.22242682C>T g.22221136C>T - - ANO5_000066 - PubMed: Magrib 2012 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Magrib 2012 3-generation family, 1 affected, unaffecteds carrier parents M no Italy - - 0 - - 1 Johan den Dunnen
+/. 5 c.220C>T r.(?) p.(Arg74*) Parent #1 - pathogenic (recessive) g.22242682C>T g.22221136C>T - - ANO5_000066 - PubMed: Magri 2015 - - Germline - - - 0 - DNA SEQ - - LGMD Fam97Pat1 PubMed: Magri 2015 - M - Italy - - 0 - - 1 Johan den Dunnen
+?/. - c.220C>T r.(?) p.(Arg74*) Unknown - likely pathogenic g.22242682C>T g.22221136C>T - - ANO5_000066 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 2 Johan den Dunnen
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