All transcript variants in 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.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 4 c.148C>T - r.? p.(Arg50*) g.22239801C>T - - - ANO5_000052 - - - Germline - - - 0 - Tom Winder
+/. 4 c.148C>T - r.(?) p.(Arg50*) g.22239801C>T - - - ANO5_000052 - PubMed: Wahbi 2012 - Germline - - - 0 - Johan den Dunnen
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