Full data view for gene DYSF

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
NOTE: the DYSF coding DNA reference sequence used has been updated. The "DNA_change" column gives descriptions based on NM_003494.3, meaning that exon 40b has been removed and variant descriptions 3' of c.4410 differ from those given previously (-63 nucleotides). The column "DNA_AllExon" gives descriptions based on a transcript incl. exons 5b and 40b. For details see the DYSF coding DNA reference sequence.
Information The variants shown are described using the NM_003494.3 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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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     
+?/. 29 c.3137G>A r.(?) p.(Arg1046His) Parent #2 - pathogenic (recessive) g.71797834G>A g.71570704G>A - - DYSF_000023 - PubMed: Xi 2014, Journal: Xi 2014 - - Germline - - - - - DNA SEQ - - LGMDR2;LGMD2B 25591676 F1-303-1-1 PubMed: Xi 2014, Journal: Xi 2014 - M - China - >41y - - - 1 Pieter Klap
+/. 29 c.3137G>A r.(?) p.(Arg1046His) Parent #1 - pathogenic (recessive) g.71797834G>A g.71570704G>A - - DYSF_000023 - PubMed: Aoki, {DB: Newcastle}, OMIM:var0011 - rs28939700 Germline - - - - - DNA SEQ, SSCA - - MMD Fam10 PubMed: Aoki, {DB: Newcastle}, OMIM:var0011 - M - Japan - - - - - 1 Johan den Dunnen
+/. 29 c.3137G>A r.(?) p.(Arg1046His) Parent #2 - pathogenic (recessive) g.71797834G>A g.71570704G>A - - DYSF_000023 - PubMed: Aoki, {DB: Newcastle}, OMIM:var0011 - rs28939700 Germline - - - - - DNA SEQ, SSCA - - MMD Fam10 PubMed: Aoki, {DB: Newcastle}, OMIM:var0011 - M - Japan - - - - - 1 Johan den Dunnen
+/. 29 c.3137G>A r.(?) p.(Arg1046His) Parent #1 - pathogenic (recessive) g.71797834G>A g.71570704G>A - - DYSF_000023 - - - rs28939700 Germline - - - - - DNA SEQ - - LGMD - - - F - Germany - >27y - - - 1 Lab Müller-Reible
+/. 29 c.3137G>A r.(?) p.(Arg1046His) Parent #2 - pathogenic (recessive) g.71797834G>A g.71570704G>A - - DYSF_000023 - - - rs28939700 Germline - - - - - DNA SEQ - - LGMD - - - F - Germany - >27y - - - 1 Lab Müller-Reible
+/. 29 c.3137G>A r.(?) p.(Arg1046His) Parent #1 ACMG pathogenic g.71797834G>A g.71570704G>A - - DYSF_000023 ACMG PM3 strong, PM2, PP4 moderate, PP1 supporting, PP3; classification updated PubMed: Nguyen 2005, Journal: Charnay 2021 - rs28939700 Germline - - - - - DNA SEQ - - ? - PubMed: Nguyen 2005 - - - France - - - - - 1 Svetlana Gorokhova
+?/. 29 c.3137G>A r.(?) p.(Arg1046His) Parent #1 ACMG pathogenic g.71797834G>A g.71570704G>A - - DYSF_000023 ACMG PM3 strong, PM2, PP4 moderate, PP1 supporting, PP3; classification updated not in 200 control alleles PubMed: Krahn 2008, Journal: Charnay 2021 - rs28939700 Germline - - - - - DNA DHPLC, SEQ - - MMD - PubMed: Krahn 2008 2 affecteds 1 generation F - France white - - - - 1 Svetlana Gorokhova
+?/. 29 c.3137G>A r.(?) p.(Arg1046His) Parent #1 ACMG pathogenic g.71797834G>A g.71570704G>A - - DYSF_000023 ACMG PM3 strong, PM2, PP4 moderate, PP1 supporting, PP3; classification updated not in 200 control alleles PubMed: Krahn 2008, Journal: Charnay 2021 - rs28939700 Germline - - - - - DNA DHPLC, SEQ - - MMD - PubMed: Krahn 2008 2 affecteds 1 generation M - France white - - - - 1 Svetlana Gorokhova
+?/. 29 c.3137G>A r.(?) p.(Arg1046His) Parent #1 ACMG pathogenic g.71797834G>A g.71570704G>A - - DYSF_000023 ACMG PM3 strong, PM2, PP4 moderate, PP1 supporting, PP3; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - rs28939700 Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - - - France - - - - - 1 Svetlana Gorokhova
+/. 29 c.3137G>A r.(?) p.(Arg1046His) Unknown - pathogenic (recessive) g.71797834G>A g.71570704G>A - - DYSF_000023 from website {DBsub-Emory} - - rs28939700 Unknown - - - - - DNA SEQ - - ? Emory-? - - - - (United States) - - - - - 1 Madhuri Hegde
+/. 29 c.3137G>A r.(?) p.(Arg1046His) Parent #1 - pathogenic (recessive) g.71797834G>A g.71570704G>A - - DYSF_000023 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 29 c.3137G>A r.(?) p.(Arg1046His) Parent #1 - pathogenic (recessive) g.71797834G>A g.71570704G>A - - DYSF_000023 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 29 c.3137G>A r.(?) p.(Arg1046His) Parent #1 - pathogenic (recessive) g.71797834G>A g.71570704G>A - - DYSF_000023 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 29 c.3137G>A r.(?) p.(Arg1046His) Parent #1 - pathogenic (recessive) g.71797834G>A g.71570704G>A - - DYSF_000023 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 29 c.3137G>A r.(?) p.(Arg1046His) Parent #1 - pathogenic (recessive) g.71797834G>A g.71570704G>A - - DYSF_000023 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 29 c.3137G>A r.(?) p.(Arg1046His) Both (homozygous) - pathogenic (recessive) g.71797834G>A g.71570704G>A - - DYSF_000023 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
+/. 29 c.3137G>A r.(?) p.(Arg1046His) Both (homozygous) - pathogenic (recessive) g.71797834G>A g.71570704G>A - - DYSF_000023 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
+/. 29 c.3137G>A r.(?) p.(Arg1046His) Both (homozygous) - pathogenic (recessive) g.71797834G>A g.71570704G>A - - DYSF_000023 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
+/. 29 c.3137G>A r.(?) p.(Arg1046His) Both (homozygous) - pathogenic (recessive) g.71797834G>A g.71570704G>A - - DYSF_000023 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
+/. 29 c.3137G>A r.(?) p.(Arg1046His) Both (homozygous) - pathogenic (recessive) g.71797834G>A g.71570704G>A - - DYSF_000023 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
+/. 29 c.3137G>A r.(?) p.(Arg1046His) Parent #2 - pathogenic (recessive) g.71797834G>A g.71570704G>A - - DYSF_000023 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD 77 Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 29 c.3137G>A r.(?) p.(Arg1046His) Parent #2 - pathogenic (recessive) g.71797834G>A g.71570704G>A - - DYSF_000023 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ-NG - - MD Dys-248 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 29 c.3137G>A r.(?) p.(Arg1046His) Parent #2 - pathogenic (recessive) g.71797834G>A g.71570704G>A - - DYSF_000023 - PubMed: Jin 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - MD Pat54 PubMed: Jin 2016 - M - China - - - - - 1 Johan den Dunnen
+/. 29 c.3137G>A r.(?) p.(Arg1046His) Both (homozygous) - pathogenic (recessive) g.71797834G>A g.71570704G>A - - DYSF_000023 - PubMed: Jin 2016 - - Germline - - - - - DNA SEQ - - MD Pat56 PubMed: Jin 2016 - M - China - - - - - 1 Johan den Dunnen
+?/. - c.3137G>A r.(?) p.(Arg1046His) Unknown - likely pathogenic g.71797834G>A g.71570704G>A - - DYSF_000023 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
+/. 29 c.3137G>A r.(?) p.(Arg1046His) Unknown ACMG pathogenic (recessive) g.71797834G>A - - - DYSF_000023 ACMG PM3 strong, PM2, PP4 moderate, PP1 supporting, PP3 Journal: Charnay 2021 - - Germline yes - - - - DNA SEQ - - MMD - Journal: Charnay 2021 - M - France - - - - - 1 Svetlana Gorokhova
+?/. - c.3137G>A r.(?) p.(Arg1046His) Parent #1 ACMG likely pathogenic g.71797834G>A g.71570704G>A - - DYSF_000023 ACMG PM3_s, PP3, BS1 PubMed: Zhong 2021, Journal: Zhong 2021 - rs121908958 Germline - 6/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat18 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+?/. - c.3137G>A r.(?) p.(Arg1046His) Parent #1 ACMG likely pathogenic g.71797834G>A g.71570704G>A - - DYSF_000023 ACMG PM3_s, PP3, BS1 PubMed: Zhong 2021, Journal: Zhong 2021 - rs121908958 Germline - 6/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat203 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+?/. - c.3137G>A r.(?) p.(Arg1046His) Parent #2 ACMG likely pathogenic g.71797834G>A g.71570704G>A - - DYSF_000023 ACMG PM3_s, PP3, BS1 PubMed: Zhong 2021, Journal: Zhong 2021 - rs121908958 Germline - 6/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat16 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+?/. - c.3137G>A r.(?) p.(Arg1046His) Parent #2 ACMG likely pathogenic g.71797834G>A g.71570704G>A - - DYSF_000023 ACMG PM3_s, PP3, BS1 PubMed: Zhong 2021, Journal: Zhong 2021 - rs121908958 Germline - 6/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat18 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+?/. - c.3137G>A r.(?) p.(Arg1046His) Parent #2 ACMG likely pathogenic g.71797834G>A g.71570704G>A - - DYSF_000023 ACMG PM3_s, PP3, BS1 PubMed: Zhong 2021, Journal: Zhong 2021 - rs121908958 Germline - 6/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat148 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+?/. - c.3137G>A r.(?) p.(Arg1046His) Parent #2 ACMG likely pathogenic g.71797834G>A g.71570704G>A - - DYSF_000023 ACMG PM3_s, PP3, BS1 PubMed: Zhong 2021, Journal: Zhong 2021 - rs121908958 Germline - 6/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat203 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.3137G>A r.(?) p.(Arg1046His) Both (homozygous) ACMG pathogenic (recessive) g.71797834G>A g.71570704G>A - - DYSF_000023 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat40 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
+/. - c.3137G>A r.(?) p.(Arg1046His) Both (homozygous) ACMG pathogenic (recessive) g.71797834G>A g.71570704G>A - - DYSF_000023 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat41 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
+/. - c.3137G>A r.(?) p.(Arg1046His) Both (homozygous) ACMG pathogenic (recessive) g.71797834G>A g.71570704G>A - - DYSF_000023 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat57 PubMed: Chakravorty 2020 - F - India India - - - - 1 Johan den Dunnen
+/. - c.3137G>A r.(?) p.(Arg1046His) Both (homozygous) ACMG pathogenic (recessive) g.71797834G>A g.71570704G>A - - DYSF_000023 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat62 PubMed: Chakravorty 2020 - F - India India - - - - 1 Johan den Dunnen
+/. - c.3137G>A r.(?) p.(Arg1046His) Both (homozygous) ACMG pathogenic (recessive) g.71797834G>A g.71570704G>A - - DYSF_000023 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat67 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
+/. 29 c.3137G>A r.(?) p.(Arg1046His) Parent #2 - pathogenic (recessive) g.71797834G>A g.71570704G>A - - DYSF_000023 - PubMed: Khadilkar 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel MYOP Pat-DYSF13 PubMed: Khadilkar 2022 - - - India - - - - - 1 Johan den Dunnen
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