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.

12 entries on 1 page. Showing entries 1 - 12.
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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.155A>G r.(?) p.(Asn52Ser) - pathogenic g.22239808A>G g.22218262A>G N52K - ANO5_000048 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.155A>G r.(?) p.(Asn52Ser) - pathogenic g.22239808A>G g.22218262A>G - - ANO5_000048 - PubMed: Sarkozy 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.155A>G r.(?) p.(Asn52Ser) - pathogenic g.22239808A>G g.22218262A>G N52K - ANO5_000048 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.155A>G r.(?) p.(Asn52Ser) - pathogenic g.22239808A>G g.22218262A>G N52K - ANO5_000048 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.155A>G r.(?) p.(Asn52Ser) - pathogenic g.22239808A>G g.22218262A>G N52K - ANO5_000048 - PubMed: Wahbi 2012 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.155A>G r.(?) p.(Asn52Ser) - likely benign g.22239808A>G g.22218262A>G ANO5(NM_213599.2):c.155A>G (p.N52S, p.(Asn52Ser)) - ANO5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. 4 c.155A>G r.(?) p.(Asn52Ser) - VUS g.22239808A>G g.22218262A>G - - ANO5_000048 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
-?/. - c.155A>G r.(?) p.(Asn52Ser) - likely benign g.22239808A>G g.22218262A>G ANO5(NM_213599.2):c.155A>G (p.N52S, p.(Asn52Ser)) - ANO5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.155A>G r.(?) p.(Asn52Ser) - VUS g.22239808A>G g.22218262A>G ANO5(NM_213599.2):c.155A>G (p.N52S, p.(Asn52Ser)) - ANO5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.155A>G r.(?) p.(Asn52Ser) - VUS g.22239808A>G g.22218262A>G - - ANO5_000048 conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143777403 Germline - 6/2794 individuals - 0 - Mohammed Faruq
+/. - c.155A>G r.(?) p.(Asn52Ser) - pathogenic (recessive) g.22239808A>G g.22218262A>G - - ANO5_000048 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+/. - c.155A>G r.(?) p.(Asn52Ser) - pathogenic (recessive) g.22239808A>G g.22218262A>G - - ANO5_000048 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
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