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.

15 entries on 1 page. Showing entries 1 - 15.
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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     
+/. 5 c.242A>G r.(?) p.(Asp81Gly) - pathogenic g.22242704A>G g.22221158A>G D81G - ANO5_000056 - Fichna ESHG2016 P10.20 - - Germline yes 1/82 cases LGMD - 0 - Johan den Dunnen
+/. 5 c.242A>G r.(?) p.(Asp81Gly) - pathogenic g.22242704A>G g.22221158A>G D81G - ANO5_000056 - Fichna ESHG2016 P10.20 - - Germline - 1/82 cases LGMD - 0 - Johan den Dunnen
+/. 5 c.242A>G r.(?) p.(Asp81Gly) - pathogenic g.22242704A>G g.22221158A>G - - ANO5_000056 - PubMed: Sarkozy 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.242A>G r.(?) p.(Asp81Gly) - pathogenic g.22242704A>G g.22221158A>G - - ANO5_000056 - PubMed: Sarkozy 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.242A>G r.(?) p.(Asp81Gly) - pathogenic g.22242704A>G g.22221158A>G - - ANO5_000056 - PubMed: Sarkozy 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.242A>G r.(?) p.(Asp81Gly) - pathogenic g.22242704A>G g.22221158A>G - - ANO5_000056 - PubMed: Penttila 2012 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.242A>G r.(?) p.(Asp81Gly) ACMG likely pathogenic g.22242704A>G g.22221158A>G - - ANO5_000056 ACMG grading: PS3, PS4, PM3, PP3; additional variants in NEB, DES, TTN PubMed: Fichna 2018 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.242A>G r.(?) p.(Asp81Gly) ACMG likely pathogenic g.22242704A>G g.22221158A>G - - ANO5_000056 ACMG grading: PS3, PS4, PM3, PP3; additional variants in BAG3, FLNC, CHRNE, CACNA1S, TTN x2 PubMed: Fichna 2018 - - Germline - - - 0 - Johan den Dunnen
+?/. 5 c.242A>G r.(?) p.(Asp81Gly) - likely pathogenic g.22242704A>G g.22221158A>G - - ANO5_000056 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+?/. 5 c.242A>G r.(?) p.(Asp81Gly) - likely pathogenic g.22242704A>G g.22221158A>G - - ANO5_000056 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+?/. 5 c.242A>G r.(?) p.(Asp81Gly) - likely pathogenic g.22242704A>G g.22221158A>G - - ANO5_000056 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+?/. 5 c.242A>G r.(?) p.(Asp81Gly) - likely pathogenic g.22242704A>G g.22221158A>G - - ANO5_000056 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+?/. 5 c.242A>G r.(?) p.(Asp81Gly) - likely pathogenic g.22242704A>G g.22221158A>G - - ANO5_000056 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+?/. 5 c.242A>G r.(?) p.(Asp81Gly) - likely pathogenic g.22242704A>G g.22221158A>G - - ANO5_000056 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+?/. 5 c.242A>G r.(?) p.(Asp81Gly) - likely pathogenic g.22242704A>G g.22221158A>G - - ANO5_000056 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
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