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.

35 entries on 1 page. Showing entries 1 - 35.
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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     
+/. 15 c.1375dup r.(?) p.(Met459Asnfs*15) Parent #1 - pathogenic (recessive) g.71762419dup g.71535289dup - - DYSF_000363 - PubMed: Xi 2014, Journal: Xi 2014 - - Germline - - - - - DNA SEQ - - LGMDR2;LGMD2B 25591676 F1-306-1-1 PubMed: Xi 2014, Journal: Xi 2014 - M - China - >29y - - - 1 Pieter Klap
+/. 15 c.1375dup r.(?) p.(Met459Asnfs*15) Parent #1 - pathogenic (recessive) g.71762419dup g.71535289dup - - DYSF_000363 - PubMed: Xi 2014, Journal: Xi 2014 - - Germline - - - - - DNA SEQ - - MMD 25591676 F1-317-1-1 PubMed: Xi 2014, Journal: Xi 2014 - M - China - >23y - - - 1 Pieter Klap
+/. 15 c.1375dup r.(?) p.(Met459Asnfs*15) Unknown - pathogenic (recessive) g.71762419dup g.71535289dup 1375dupA - DYSF_000363 - - - - Germline - - - - - DNA SEQ - - MMD - - - M - (Canada) - - - - - 1 Lab Müller-Reible
+/. 15 c.1375dup r.(?) p.(Met459Asnfs*15) Parent #1 - pathogenic (recessive) g.71762419dup g.71535289dup 1375dupA - DYSF_000363 - PubMed: Jin 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - MD Pat2 PubMed: Jin 2016 - F - China - - - - - 1 Johan den Dunnen
+/. 15 c.1375dup r.(?) p.(Met459Asnfs*15) Both (homozygous) - pathogenic (recessive) g.71762419dup g.71535289dup 1375dupA - DYSF_000363 - PubMed: Jin 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - MD Pat11 PubMed: Jin 2016 - M - China - - - - - 1 Johan den Dunnen
+/. 15 c.1375dup r.(?) p.(Met459Asnfs*15) Parent #1 - pathogenic (recessive) g.71762419dup g.71535289dup 1375dupA - DYSF_000363 - PubMed: Jin 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - MD Pat54 PubMed: Jin 2016 - M - China - - - - - 1 Johan den Dunnen
+/. 15 c.1375dup r.(?) p.(Met459Asnfs*15) Parent #1 - pathogenic (recessive) g.71762419dup g.71535289dup 1375dupA - DYSF_000363 - PubMed: Jin 2016 - - Germline - - - - - DNA SEQ - - MD Pat55 PubMed: Jin 2016 - M - China - - - - - 1 Johan den Dunnen
+/. 15 c.1375dup r.(?) p.(Met459Asnfs*15) Parent #2 - pathogenic (recessive) g.71762419dup g.71535289dup 1375dupA - DYSF_000363 - PubMed: Jin 2016 - - Germline - - - - - DNA SEQ - - MD Pat57 PubMed: Jin 2016 - F - China - - - - - 1 Johan den Dunnen
+/. 15 c.1375dup r.(?) p.(Met459Asnfs*15) Parent #1 - pathogenic (recessive) g.71762419dup g.71535289dup 1375dupA - DYSF_000363 - PubMed: Jin 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - MD Pat77 PubMed: Jin 2016 - F - China - - - - - 1 Johan den Dunnen
+/. - c.1375dup r.(?) p.(Met459Asnfs*15) Parent #1 - pathogenic (recessive) g.71762419dup g.71535289dup c.1375dupA - DYSF_000363 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P74 PubMed: Yu 2017 analysis 180 LGMD patients F - China - - - - - 1 Johan den Dunnen
+/. - c.1375dup r.(?) p.(Met459Asnfs*15) Paternal (confirmed) - pathogenic (recessive) g.71762419dup g.71535289dup c.1375dupA - DYSF_000363 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P87 PubMed: Yu 2017 analysis 180 LGMD patients M - China - - - - - 1 Johan den Dunnen
+/. - c.1375dup r.(?) p.(Met459Asnfs*15) Paternal (confirmed) - pathogenic (recessive) g.71762419dup g.71535289dup c.1375dupA - DYSF_000363 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P151 PubMed: Yu 2017 analysis 180 LGMD patients F - China - - - - - 1 Johan den Dunnen
+/. 15 c.1375dup r.(?) p.(Met459Asnfs*15) Unknown ACMG pathogenic (recessive) g.71762419dup - - - DYSF_000363 ACMG PVS1, PM2, PM3, PP4 moderate Journal: Charnay 2021 - - Germline yes - - - - DNA SEQ - - MMD - Journal: Charnay 2021 - - - France - - - - - 1 Svetlana Gorokhova
+/. - c.1375dup r.(?) p.(Met459AsnfsTer15) Parent #1 ACMG pathogenic g.71762419dup g.71535289dup - - DYSF_000363 ACMG PVS1, PM3_v, PP4_s, PM2, PM4, PP1 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 21/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat16 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.1375dup r.(?) p.(Met459AsnfsTer15) Parent #1 ACMG pathogenic g.71762419dup g.71535289dup - - DYSF_000363 ACMG PVS1, PM3_v, PP4_s, PM2, PM4, PP1 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 21/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat17 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.1375dup r.(?) p.(Met459AsnfsTer15) Parent #1 ACMG pathogenic g.71762419dup g.71535289dup - - DYSF_000363 ACMG PVS1, PM3_v, PP4_s, PM2, PM4, PP1 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 21/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat52 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.1375dup r.(?) p.(Met459AsnfsTer15) Parent #1 ACMG pathogenic g.71762419dup g.71535289dup - - DYSF_000363 ACMG PVS1, PM3_v, PP4_s, PM2, PM4, PP1 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 21/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat56 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.1375dup r.(?) p.(Met459AsnfsTer15) Parent #1 ACMG pathogenic g.71762419dup g.71535289dup - - DYSF_000363 ACMG PVS1, PM3_v, PP4_s, PM2, PM4, PP1 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 21/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat76 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.1375dup r.(?) p.(Met459AsnfsTer15) Parent #1 ACMG pathogenic g.71762419dup g.71535289dup - - DYSF_000363 ACMG PVS1, PM3_v, PP4_s, PM2, PM4, PP1 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 21/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat103 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.1375dup r.(?) p.(Met459AsnfsTer15) Parent #1 ACMG pathogenic g.71762419dup g.71535289dup - - DYSF_000363 ACMG PVS1, PM3_v, PP4_s, PM2, PM4, PP1 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 21/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat152 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.1375dup r.(?) p.(Met459AsnfsTer15) Parent #1 ACMG pathogenic g.71762419dup g.71535289dup - - DYSF_000363 ACMG PVS1, PM3_v, PP4_s, PM2, PM4, PP1 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 21/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat169 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.1375dup r.(?) p.(Met459AsnfsTer15) Parent #1 ACMG pathogenic g.71762419dup g.71535289dup - - DYSF_000363 ACMG PVS1, PM3_v, PP4_s, PM2, PM4, PP1 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 21/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat176 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.1375dup r.(?) p.(Met459AsnfsTer15) Parent #1 ACMG pathogenic g.71762419dup g.71535289dup - - DYSF_000363 ACMG PVS1, PM3_v, PP4_s, PM2, PM4, PP1 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 21/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat201 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.1375dup r.(?) p.(Met459AsnfsTer15) Parent #1 ACMG pathogenic g.71762419dup g.71535289dup - - DYSF_000363 ACMG PVS1, PM3_v, PP4_s, PM2, PM4, PP1 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 21/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat217 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.1375dup r.(?) p.(Met459AsnfsTer15) Parent #1 ACMG pathogenic g.71762419dup g.71535289dup - - DYSF_000363 ACMG PVS1, PM3_v, PP4_s, PM2, PM4, PP1 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 21/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat240 PubMed: Zhong 2021, Journal: Zhong 2021 - - - China - - - - - 1 Huahua Zhong
+/. - c.1375dup r.(?) p.(Met459AsnfsTer15) Parent #1 ACMG pathogenic g.71762419dup g.71535289dup - - DYSF_000363 ACMG PVS1, PM3_v, PP4_s, PM2, PM4, PP1 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 21/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat242 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.1375dup r.(?) p.(Met459AsnfsTer15) Parent #2 ACMG pathogenic g.71762419dup g.71535289dup - - DYSF_000363 ACMG PVS1, PM3_v, PP4_s, PM2, PM4, PP1 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 21/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat20 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.1375dup r.(?) p.(Met459AsnfsTer15) Parent #2 ACMG pathogenic g.71762419dup g.71535289dup - - DYSF_000363 ACMG PVS1, PM3_v, PP4_s, PM2, PM4, PP1 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 21/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat56 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.1375dup r.(?) p.(Met459AsnfsTer15) Parent #2 ACMG pathogenic g.71762419dup g.71535289dup - - DYSF_000363 ACMG PVS1, PM3_v, PP4_s, PM2, PM4, PP1 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 21/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat89 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.1375dup r.(?) p.(Met459AsnfsTer15) Parent #2 ACMG pathogenic g.71762419dup g.71535289dup - - DYSF_000363 ACMG PVS1, PM3_v, PP4_s, PM2, PM4, PP1 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 21/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat103 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.1375dup r.(?) p.(Met459AsnfsTer15) Parent #2 ACMG pathogenic g.71762419dup g.71535289dup - - DYSF_000363 ACMG PVS1, PM3_v, PP4_s, PM2, PM4, PP1 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 21/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat194 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.1375dup r.(?) p.(Met459AsnfsTer15) Parent #2 ACMG pathogenic g.71762419dup g.71535289dup - - DYSF_000363 ACMG PVS1, PM3_v, PP4_s, PM2, PM4, PP1 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 21/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat201 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.1375dup r.(?) p.(Met459AsnfsTer15) Parent #2 ACMG pathogenic g.71762419dup g.71535289dup - - DYSF_000363 ACMG PVS1, PM3_v, PP4_s, PM2, PM4, PP1 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 21/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat217 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.1375dup r.(?) p.(Met459AsnfsTer15) Parent #2 ACMG pathogenic g.71762419dup g.71535289dup - - DYSF_000363 ACMG PVS1, PM3_v, PP4_s, PM2, PM4, PP1 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 21/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat242 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. 15 c.1375dup r.(?) p.(Met459AsnfsTer15) Parent #1 - pathogenic (recessive) g.71762419dup g.71535289dup 1375dupA - DYSF_000363 no varint 2nd chromosome PubMed: Guo 2021 - - Germline - - - - - DNA SEQ - - MD Pat15 PubMed: Guo 2021 patient M - China - - - - - 1 Johan den Dunnen
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