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.

6 entries on 1 page. Showing entries 1 - 6.
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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.267T>C r.(?) p.(=) - benign g.22242729T>C g.22221183T>C D89D - ANO5_000007 from website {DBsub-Emory} - - rs4312063 Germline - - - 0 - Madhuri Hegde
-/. - c.267T>C r.(?) p.(Asp89=) - benign g.22242729T>C g.22221183T>C ANO5(NM_001142649.2):c.264T>C (p.D88=), ANO5(NM_213599.2):c.267T>C (p.D89=) - ANO5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.267T>C r.(?) p.(Asp89=) - benign g.22242729T>C g.22221183T>C ANO5(NM_001142649.2):c.264T>C (p.D88=), ANO5(NM_213599.2):c.267T>C (p.D89=) - ANO5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.267T>C r.(?) p.(Asp89=) - benign g.22242729T>C g.22221183T>C ANO5(NM_001142649.2):c.264T>C (p.D88=), ANO5(NM_213599.2):c.267T>C (p.D89=) - ANO5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.267T>C r.(?) p.(Asp89=) - benign g.22242729T>C g.22221183T>C ANO5(NM_001142649.2):c.264T>C (p.D88=), ANO5(NM_213599.2):c.267T>C (p.D89=) - ANO5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.267T>C r.(?) p.(Asp89=) - benign g.22242729T>C g.22221183T>C ANO5(NM_001142649.2):c.264T>C (p.D88=), ANO5(NM_213599.2):c.267T>C (p.D89=) - ANO5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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