All variants in the CAV3 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_033337.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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     
?/. 1 c.-37G>A r.(?) p.(=) - VUS g.8775526G>A g.8733840G>A - - CAV3_000050 - - - rs116840771 Germline - - - - - Andreas Laner
?/. 1 c.-37G>A r.(?) p.(=) - VUS g.8775526G>A g.8733840G>A - - CAV3_000050 - - - - Germline - - - - - Ieke Ginjaar
-?/. - c.-37G>A r.(?) p.(=) - likely benign g.8775526G>A g.8733840G>A CAV3(NM_033337.2):c.-37G>A, CAV3(NM_033337.3):c.-37G>A - CAV3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-37G>A r.(?) p.(=) - benign g.8775526G>A - CAV3(NM_033337.2):c.-37G>A, CAV3(NM_033337.3):c.-37G>A - CAV3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-37G>A r.(?) p.(=) - likely benign g.8775526G>A - CAV3(NM_033337.2):c.-37G>A, CAV3(NM_033337.3):c.-37G>A - CAV3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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