Full data view for gene CAPN3

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000070.2 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Parent #1 - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 not in 120 control chromosomes PubMed: Richard 1995, OMIM:var0001 - - Germline - - - - - DNA HD, SEQ, SSCA - - LGMD 07720071-A PubMed: Richard 1995, OMIM:var0001 15 linked families Indiana - - United States Amish - - - - 15 Johan den Dunnen
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Parent #2 - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 not in 120 control chromosomes PubMed: Richard 1995, OMIM:var0001 - - Germline - - - - - DNA HD, SEQ, SSCA - - LGMD 07720071-A PubMed: Richard 1995, OMIM:var0001 15 linked families Indiana - - United States Amish - - - - 15 Johan den Dunnen
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Parent #1 - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 not in 120 control chromosomes PubMed: Richard 1995, PubMed: de Paula, OMIM:var0001 - - Germline - - - - - DNA DHPLC, HD, SEQ - - LGMD 07720071-B501 PubMed: Richard 1995, PubMed: de Paula, OMIM:var0001 - F;M - Brazil white - - - - 1 Johan den Dunnen
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Parent #2 - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 not in 120 control chromosomes PubMed: Richard 1995, PubMed: de Paula, OMIM:var0001 - - Germline - - - - - DNA DHPLC, HD, SEQ - - LGMD 07720071-B501 PubMed: Richard 1995, PubMed: de Paula, OMIM:var0001 - F;M - Brazil white - - - - 1 Johan den Dunnen
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Parent #1 - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 - PubMed: Starling - - Germline - - - - - DNA SEQ - - SMA - PubMed: Starling 1M / 4F - - Brazil - - - - - 5 Johan den Dunnen
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Parent #2 - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 - PubMed: Starling - - Germline - - - - - DNA SEQ - - SMA - PubMed: Starling 1M / 4F - - Brazil - - - - - 5 Johan den Dunnen
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Parent #1 - pathogenic (recessive) g.42703124G>A g.42410926G>A - - CAPN3_000013 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - France - - - - - 1 Amets Sáenz
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Parent #2 - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 not in 120 control chromosomes PubMed: Richard 1995, OMIM:var0001 - - Germline - - - - - DNA HD, SEQ - - LGMD 07720071-M32 PubMed: Richard 1995 - - - France - - - - - 1 Johan den Dunnen
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Parent #1 - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F - Portugal - >11y - - - 1 Rosário dos Santos
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Parent #2 - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 - - - - Germline - - - - - DNA DGGE - - LGMD - - - M - United States - - - - - 1 Ieke Ginjaar
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Parent #1 - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 - PubMed: Krahn 2006 - - Germline - - - - - DNA DHPLC - - LGMD Pat27 PubMed: Krahn 2006 - M - France - - - - - 1 Johan den Dunnen
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Parent #1 - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous; no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - VUS g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Parent #1 - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Parent #1 - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous; no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous; no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous; no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2306G>A r.(?) p.(Arg769Gln) Both (homozygous) - pathogenic g.42703124G>A g.42410926G>A - - CAPN3_000013 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.2306G>A r.(?) p.(Arg769Gln) Unknown - pathogenic g.42703124G>A g.42410926G>A CAPN3(NM_000070.2):c.2306G>A (p.(Arg769Gln)) - CAPN3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 22 c.2306G>A r.[2306g>a,2264_23805del] p.[(Arg769Gln,?)] Unknown - NA g.42703124G>A g.42410926G>A - - CAPN3_000013 expression cloning mini-gene splicing assay mild effect on splicing PubMed: Dionnet 2020 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
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