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.

47 entries on 1 page. Showing entries 1 - 47.
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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     
+/. 3 c.164dup r.(?) p.(IIle57Hisfs*8) Parent #1 - pathogenic (recessive) g.71709028dup g.71481898dup 164dupA - DYSF_000010 - PubMed: Liu, PubMed: Aoki - - Germline - - - - - DNA SEQ, SSCA - - MMD Fam59 PubMed: Liu, PubMed: Aoki 2 affected and 3 unaffected males - - Saudi Arabia Arab - - - - 5 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(IIle57Hisfs*8) Parent #2 - pathogenic (recessive) g.71709028dup g.71481898dup 164dupA - DYSF_000010 - PubMed: Liu, PubMed: Aoki - - Germline - - - - - DNA SEQ, SSCA - - MMD Fam59 PubMed: Liu, PubMed: Aoki 2 affected and 3 unaffected males - - Saudi Arabia Arab - - - - 5 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57Hisfs*8) Paternal (inferred) - pathogenic (recessive) g.71709028dup g.71481898dup 164dup - DYSF_000010 - - - - Germline - - - - - DNA PCR, SEQ - - LGMD - - - M - Saudi Arabia Arab - - - - 1 Tom Winder
+/. 3 c.164dup r.(?) p.(Ile57Hisfs*8) Maternal (inferred) - pathogenic (recessive) g.71709028dup g.71481898dup 164dup - DYSF_000010 - - - - Germline - - - - - DNA PCR, SEQ - - LGMD - - - M - Saudi Arabia Arab - - - - 1 Tom Winder
+/. 3 c.164dup r.(?) p.(Ile57Hisfs*8) Paternal (inferred) - pathogenic (recessive) g.71709028dup g.71481898dup 164dupA - DYSF_000010 - - - - Germline - - - - - DNA PCR, SEQ - - LGMD - - - M - Saudi Arabia Arab - - - - 1 Tom Winder
+/. 3 c.164dup r.(?) p.(Ile57Hisfs*8) Maternal (inferred) - pathogenic (recessive) g.71709028dup g.71481898dup 164dupA - DYSF_000010 - - - - Germline - - - - - DNA PCR, SEQ - - LGMD - - - M - Saudi Arabia Arab - - - - 1 Tom Winder
+/. - c.164dup r.(?) p.(Ile57Hisfs*8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164dupA - DYSF_000010 - PubMed: Algahtani 2018 ClinVar-217222 rs863225020 Germline - - - - - DNA SEQ, SEQ-NG - LGMD/CMD gene panel ? patient PubMed: Algahtani 2018 2-generation family, 1 affected F - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.164dup r.(?) p.(Ile57Hisfs*8) Both (homozygous) ACMG pathogenic (recessive) g.71709028dup g.71481898dup NM_003494:c.164_165insA - DYSF_000010 ACMG PVS1, PP1-S, PM2, PM3, PM4, PP1-M, PP1, PP3, PP4 PubMed: Monies 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - 759-gene panel neurological disorders LGMD Fam50 / 12R-01190 PubMed: Monies 2016 759-gene panel analysis 50 patients suspected of LGMD - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam1PatA PubMed: Alharbi 2022 patient, family history F - Saudi Arabia Bedoin - - - - 1 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam2PatA PubMed: Alharbi 2022 patient, no family history M - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam3PatA PubMed: Alharbi 2022 family, 4 affected F - Saudi Arabia Bedoin - - - - 4 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam3PatB PubMed: Alharbi 2022 relative M - Saudi Arabia Bedoin - - - - 1 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam3PatC PubMed: Alharbi 2022 relative M - Saudi Arabia Bedoin - - - - 1 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam3PatD PubMed: Alharbi 2022 relative F - Saudi Arabia Bedoin - - - - 1 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam7PatA PubMed: Alharbi 2022 family, 2 affected M - Saudi Arabia Bedoin - - - - 2 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam7PatB PubMed: Alharbi 2022 relative F - Saudi Arabia Bedoin - - - - 1 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam9PatA PubMed: Alharbi 2022 family, 2 affected F - Saudi Arabia Bedoin - - - - 2 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam9PatB PubMed: Alharbi 2022 relative F - Saudi Arabia Bedoin - - - - 1 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam11PatA PubMed: Alharbi 2022 patient, no family history M - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam12PatA PubMed: Alharbi 2022 patient, no family history F - Saudi Arabia Bedoin - - - - 1 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam13PatA PubMed: Alharbi 2022 family, 2 affected M - Saudi Arabia Bedoin - - - - 2 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam13PatB PubMed: Alharbi 2022 relative F - Saudi Arabia Bedoin - - - - 1 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam14PatA PubMed: Alharbi 2022 family, 3 affected M - Saudi Arabia Bedoin - - - - 3 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam14PatB PubMed: Alharbi 2022 relative M - Saudi Arabia Bedoin - - - - 1 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam14PatC PubMed: Alharbi 2022 relative M - Saudi Arabia Bedoin - - - - 1 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam17PatA PubMed: Alharbi 2022 patient, no family history M - Saudi Arabia Bedoin - - - - 1 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam19PatA PubMed: Alharbi 2022 patient, no family history F - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam20PatA PubMed: Alharbi 2022 patient, no family history M - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam22PatA PubMed: Alharbi 2022 family, 5 affected F - Saudi Arabia Bedoin - - - - 5 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam22PatB PubMed: Alharbi 2022 relative M - Saudi Arabia Bedoin - - - - 1 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam22PatC PubMed: Alharbi 2022 relative M - Saudi Arabia Bedoin - - - - 1 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam22PatD PubMed: Alharbi 2022 relative F - Saudi Arabia Bedoin - - - - 1 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam22PatE PubMed: Alharbi 2022 relative M - Saudi Arabia Bedoin - - - - 1 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam23PatA PubMed: Alharbi 2022 family, 3 affected F - Saudi Arabia Bedoin - - - - 3 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam23PatB PubMed: Alharbi 2022 relative F - Saudi Arabia Bedoin - - - - 1 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam23PatC PubMed: Alharbi 2022 relative F - Saudi Arabia Bedoin - - - - 1 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam28PatA PubMed: Alharbi 2022 patient, family history M - Saudi Arabia Bedoin - - - - 1 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam30PatA PubMed: Alharbi 2022 patient, no family history M - Saudi Arabia Bedoin - - - - 1 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam31PatA PubMed: Alharbi 2022 patient, no family history F - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam32PatA PubMed: Alharbi 2022 patient, family history M - Saudi Arabia Bedoin - - - - 1 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam33PatA PubMed: Alharbi 2022 family, 2 affected M - Saudi Arabia Bedoin - - - - 2 Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 164_165insA - DYSF_000010 - PubMed: Alharbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam33PatB PubMed: Alharbi 2022 relative F - Saudi Arabia Bedoin - - - - 1 Johan den Dunnen
+/. - c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup NM_001130987.2:c.167dup - DYSF_000010 - PubMed: Alhammad 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP - PubMed: Alhammad 2024 - - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup - - DYSF_000010 - PubMed: Alhammad 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP - PubMed: Alhammad 2024 - - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup NM_001130987.2:c.167dup - DYSF_000010 - PubMed: Alhammad 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP - PubMed: Alhammad 2024 - - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.164dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup - - DYSF_000010 - PubMed: Alhammad 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP - PubMed: Alhammad 2024 - - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.167dup r.(?) p.(Ile57HisfsTer8) Both (homozygous) - pathogenic (recessive) g.71709028dup g.71481898dup 166dupA - DYSF_000010 - PubMed: Aldosari 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? patient PubMed: Aldosari 2020 - - - Saudi Arabia - - - - - 1 Johan den Dunnen
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