Full data view for gene RYR1

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000540.2 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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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     
+/. 17 c.(1840C>T) r.(?) p.(Arg614Cys) Parent #1 - pathogenic g.38948185C>T g.38457545C>T (1843C>T pig) - RYR1_000001 in pigs Arg615Cys Fujii (1991), OMIM:var0001 - rs28933996 Germline - - - - - DNA SEQ - - MHS - Fujii (1991), OMIM:var0001 - - - - - - - - - 1 Johan den Dunnen
+/. 17 c.(1840C>T) r.(?) p.(Arg614Cys) Parent #1 - pathogenic g.38948185C>T g.38457545C>T (1843C>T pig) - RYR1_000001 in pigs Arg615Cys Otsu (1991), OMIM:var0001 - rs28933996 Germline - - - - - DNA SEQ - - MHS - Otsu (1991), OMIM:var0001 - - - - - - - - - 1 Johan den Dunnen
+/. 17 c.(1840C>T) r.(?) p.(Arg614Cys) Parent #1 - pathogenic g.38948185C>T g.38457545C>T (1843C>T pig) - RYR1_000001 in pigs Arg615Cys Harbitz (1992), OMIM:var0001 - rs28933996 Germline - - - - - DNA SEQ - - MHS - Harbitz (1992), OMIM:var0001 - - - - - - - - - 1 Johan den Dunnen
+/. 17 c.(1840C>T) r.(?) p.(Arg614Cys) Maternal (confirmed) - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - PubMed: Heytens 2007 - rs28933996 Germline - - - - - DNA SEQ - - MHS - PubMed: Heytens 2007 2-generation family; variant in 2/2 MH positive individuals (in vitro contracture test) F - Belgium - - - - - 1 Jorge Oliveira
+/. 17 c.(1840C>T) r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - PubMed: Broman 2007 - rs28933996 Germline - - - - - DNA SEQ - - MHS - PubMed: Broman 2007 - M - Sweden - >11y - - - 1 Jorge Oliveira
+/. - c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T g.38457545C>T RYR1(NM_000540.2):c.1840C>T (p.R614C), RYR1(NM_000540.3):c.1840C>T (p.(Arg614Cys), p.R614C) - RYR1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T g.38457545C>T RYR1(NM_000540.2):c.1840C>T (p.R614C), RYR1(NM_000540.3):c.1840C>T (p.(Arg614Cys), p.R614C) - RYR1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Parent #1 - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - Monnier (2002) - rs28933996 Germline - - - - - DNA SEQ - - MHS - Monnier (2002) - - - France - - - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Parent #1 - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - Monnier (2002) - rs28933996 Germline - - - - - DNA SEQ - - MHS - Monnier (2002) - - - France - - - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Parent #2 - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - Monnier (2002) - rs28933996 Germline - - - - - DNA SEQ - - MHS - Monnier (2002) - - - France - - - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Parent #1 - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - Rueffert (2001) - rs28933996 Germline - - - - - DNA SEQ - - MHS - Rueffert (2001) - - - - European - - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Parent #2 - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - Rueffert (2001) - rs28933996 Germline - - - - - DNA SEQ - - MHS - Rueffert (2001) - - - - European - - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Parent #1 - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - PubMed: Romero 2003 - rs28933996 Germline - - - - - DNA SEQ - - CCD Case 1 PubMed: Romero 2003 Family I (brother died at 32w of gestation) M - France - >9y - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.1840c>u p.Arg614Cys Unknown - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - PubMed: Robinson 2006 - rs28933996 Germline - - - - - RNA RT-PCR, SEQ - - MHS - PubMed: Robinson 2006 - - - - European - - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - Barone (1999) - rs28933996 Germline - - - - - DNA SEQ - - MHS - Barone (1999) - - - - European - - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - Brandt (1999) - rs28933996 Germline - - - - - DNA SEQ - - MHS - Brandt (1999) - - - - European - - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 mapped by linkage PubMed: Deufel 1995, OMIM:var0001 - rs28933996 Germline - - RsaI- - - DNA PCRdig, SEQ - - MHS 07762556-FamMHO11 PubMed: Deufel 1995, OMIM:var0001 4-generation family 8 affecteds, conflicting data linkage/IVCT M - Germany - - - - - 4 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - Fagerlund (1994), OMIM:var0001 - rs28933996 Germline - - - - - DNA SEQ - - MHS - Fagerlund (1994), OMIM:var0001 - - - Sweden - - - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - Fagerlund (1995), OMIM:var0001 - rs28933996 Germline - - - - - DNA SEQ - - MHS - Fagerlund (1995), OMIM:var0001 - - - Sweden - - - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - Fagerlund (1997), OMIM:var0001 - rs28933996 Germline - - - - - DNA SEQ - - MHS - Fagerlund (1997), OMIM:var0001 - - - Sweden - - - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - Fiege (2002) - rs28933996 Germline - - - - - DNA SEQ - - MHS - Fiege (2002) - - - - European - - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - Fletcher (1995) - rs28933996 Germline - - - - - DNA SEQ - - MHS - Fletcher (1995) - - - - - - - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - Gillard (1991), OMIM:var0001 - rs28933996 Germline - - - - - DNA SEQ - - MHS - Gillard (1991), OMIM:var0001 - - - Canada - - - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - Girard (2001) - rs28933996 Germline - - - - - DNA SEQ - - MHS - Girard (2001) - - - - European - - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - Hall-Curran (1993) - rs28933996 Germline - - - - - DNA SEQ - - MHS - Hall-Curran (1993) - - - - - - - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - Hogan (1992) - rs28933996 Germline - - - - - DNA SEQ - - MHS - Hogan (1992) - - - - - - - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - Monnier (2005) - rs28933996 Germline - - - - - DNA SEQ - - MHS - Monnier (2005) - - - France - - - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - Quane (1994a) - rs28933996 Germline - - - - - DNA SEQ - - MHS - Quane (1994a) - - - - European - - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - Robinson (2002) - rs28933996 Germline - - - - - DNA SEQ - - MHS - Robinson (2002) - - - - European - - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - Sambuughin (2001) - rs28933996 Germline - - - - - DNA SEQ - - MHS - Sambuughin (2001) - - - United States - - - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - Sei (2004) - rs28933996 Germline - - - - - DNA SEQ - - MHS - Sei (2004) - - - United States - - - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - Shepherd (2004) - rs28933996 Germline - - - - - DNA SEQ - - MHS - Shepherd (2004) - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - Steinfath (2002) - rs28933996 Germline - - - - - DNA SEQ - - MHS - Steinfath (2002) - - - - - - - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - several publications - rs28933996 Germline - - - - - DNA SEQ - - MHS - several publications - - - - - - - - - 44 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Paternal (confirmed) - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - PubMed: Deufel 1995, OMIM:var0001 - rs28933996 Germline - - RsaI- - - DNA SEQ - - MHS 07762556-FamMHO11.408 PubMed: Deufel 1995, OMIM:var0001 - F - Germany - - - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Maternal (confirmed) - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - PubMed: Deufel 1995, OMIM:var0001 - rs28933996 Germline - - RsaI- - - DNA SEQ - - MHS 07762556-FamMHO11.408 PubMed: Deufel 1995, OMIM:var0001 - F - Germany - - - - - 1 Johan den Dunnen
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - PubMed: Galli 2006 - rs28933996 Germline - - - - - DNA SEQ, DHPLC - - MHS - PubMed: Galli 2006 - - - Italy - - - - - 1 Jorge Oliveira
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - PubMed: Ruffert 2002; PubMed: Rueffert 2002 - rs28933996 Germline - - - - - DNA SEQ - - MHS - PubMed: Ruffert 2002; PubMed: Rueffert 2002 12 affected families; 79 individuals with mutation: 42 MH positive individuals (in vitro contracture test), 1 MH equivocal, 36 not tested - - Germany - - - - - 79 Jorge Oliveira
+/. 17 c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 - PubMed: Gillies 2008 - rs28933996 Germline - - - - - DNA SEQ - - MHS - PubMed: Gillies 2008 - - - Australia - - - - - 1 Jorge Oliveira
+/. 17 c.1840C>T r.(?) p.Arg614Cys Unknown - NA g.38948185C>T g.38457545C>T - - RYR1_000001 cloned in pRc/CMV, expression in C2C12 gives increased caffeine sensitivity (+increased Ca2+-release sarcoplasmic reticulum) PubMed: Otsu 1994 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 17 c.1840C>T r.(?) p.Arg614Cys Unknown - NA g.38948185C>T g.38457545C>T - - RYR1_000001 cloned in pRc/CMV, expression in C2C12 and halothane exposure gives rapid Ca2+-increase PubMed: Otsu 1994 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 17 c.1840C>T r.(?) p.Arg614Cys Unknown - NA g.38948185C>T g.38457545C>T - - RYR1_000001 cloned cDNA myoblastic expression, rapid calcium increase when exposed to halothane and caffeine Otsu (1994), OMIM:var0001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1840C>T r.(?) p.(Arg614Cys) Unknown ACMG pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 Girard et al. 2001. Hum Mutat 18: 357; Vladutiu et al. 2011. Mol Genet Metab 104: 167 - - rs118192172 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+?/. - c.1840C>T r.(?) p.(Arg614Cys) Unknown - likely pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 2 Johan den Dunnen
+/. - c.1840C>T r.(?) p.(Arg614Cys) Unknown ACMG pathogenic g.38948185C>T g.38457545C>T - - RYR1_000001 ACMG PS3_M, PS4, PM5, PP1_St, PP3_M Journal: Johnston 2020 - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T - RYR1(NM_000540.2):c.1840C>T (p.R614C), RYR1(NM_000540.3):c.1840C>T (p.(Arg614Cys), p.R614C) - RYR1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1840C>T r.(?) p.(Arg614Cys) Unknown - VUS g.38948185C>T g.38457545C>T - - RYR1_000001 no segregation analysis PubMed: Westra 2019 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES NMD Pat141 PubMed: Westra 2019 - M - - - - - - - 1 Johan den Dunnen
+/. - c.1840C>T r.(?) p.(Arg614Cys) Unknown - pathogenic g.38948185C>T - RYR1(NM_000540.2):c.1840C>T (p.R614C), RYR1(NM_000540.3):c.1840C>T (p.(Arg614Cys), p.R614C) - RYR1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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