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.

12 entries on 1 page. Showing entries 1 - 12.
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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     
+?/. 34 c.3725G>A r.(?) p.(Arg1242His) Parent #2 - likely pathogenic (recessive) g.71827854G>A g.71600724G>A - - DYSF_000085 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - - - DNA SEQ - - ? 25868377 NP9 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >14y - - - 1 Pieter Klap
+?/. 34 c.3725G>A r.(?) p.(Arg1242His) Parent #1 - likely pathogenic (recessive) g.71827854G>A g.71600724G>A - - DYSF_000085 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - - - DNA SEQ - - ? 25868377 NP10 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >26y - - - 1 Pieter Klap
-/. 34 c.3725G>A r.(?) p.(Arg1242His) Unknown - benign g.71827854G>A g.71600724G>A - - DYSF_000085 - - - rs2303603 Germline - 0.02 - - - - - - - - - - - - - - - - - - - - -
+?/. 34 c.3725G>A r.(?) p.(Arg1242His) Parent #1 - likely pathogenic (recessive) g.71827854G>A g.71600724G>A - - DYSF_000085 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
-?/. - c.3725G>A r.(?) p.(Arg1242His) Unknown - likely benign g.71827854G>A g.71600724G>A DYSF(NM_001130981.2):c.3776G>A (p.R1259H) - DYSF_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3725G>A r.(?) p.(Arg1242His) Parent #1 - likely benign g.71827854G>A g.71600724G>A - - DYSF_000085 3 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2303603 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+?/. 34 c.3725G>A r.(?) p.(Arg1242His) Both (homozygous) - likely pathogenic (recessive) g.71827854G>A g.71600724G>A - - DYSF_000085 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD 75 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
-?/. - c.3725G>A r.(?) p.(Arg1242His) Both (homozygous) - likely benign g.71827854G>A g.71600724G>A - - DYSF_000085 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2303603 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 34 c.3725G>A r.(?) p.(Arg1242His) Parent #1 - pathogenic (recessive) g.71827854G>A g.71600724G>A R1241H - DYSF_000085 no variant identified 2nd chromosome PubMed: Jin 2016 - - Germline - - - - - DNA MLPA, SEQ - - MD Pat86 PubMed: Jin 2016 - F - China - - - - - 1 Johan den Dunnen
?/. - c.3725G>A r.(?) p.(Arg1242His) Parent #2 ACMG VUS g.71827854G>A g.71600724G>A - - DYSF_000085 no variant found on 2nd allele; ACMG PP3, BS1, PM3_sup PubMed: Zhong 2021, Journal: Zhong 2021 - rs2303603 Germline - 2/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat2 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
?/. - c.3725G>A r.(?) p.(Arg1242His) Parent #2 ACMG VUS g.71827854G>A g.71600724G>A - - DYSF_000085 ACMG PP3, BS1, PM3_sup PubMed: Zhong 2021, Journal: Zhong 2021 - rs2303603 Germline - 2/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat210 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
?/. - c.3725G>A r.(?) p.(Arg1242His) Unknown - VUS g.71827854G>A g.71600724G>A NM_001130987.1:c.3779G>A - DYSF_000085 - PubMed: Karthikeyan 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - screened DMD, PLEC, PLEC, DYSF, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1 DMD MDCRC/1019/DBI-863 PubMed: Karthikeyan 2024 - M yes India - - - yes - 1 Lakshmi Bremadesam
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