Full data view for gene SMCHD1

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_015295.2 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Exon     

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     
+/. c.? - r.? p.? - Unknown - pathogenic (!) g.? - - - SMCHD1_000000 - PubMed: Shaw 2017, Journal: Shaw 2017 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 1 affected, parents not available M - Japan - - 0 - - 1 Johan den Dunnen
+/. c.? - r.? p.? - Unknown - pathogenic (!) g.? - - - SMCHD1_000000 - PubMed: Shaw 2017, Journal: Shaw 2017 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 1 affected, parents not available F - Japan - - 0 - - 1 Johan den Dunnen
+/. c.(?_263-1)_(1647+1_?)del - r.? p.? _2i_12i_ Unknown - pathogenic (!) g.(?_2666868)_(2700917_?)del - - - SMCHD1_000000 negative by WES and Sanger seq of exons 3,8,9,10,12 PubMed: Shaw 2017, Journal: Shaw 2017 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 1 affected, parents not available F - - Chinese;Vietnamese - 0 - - 1 Johan den Dunnen
+/. c.(?_263-1)_(1647+1_?)del - r.? p.? _2i_12i_ Unknown - pathogenic (!) g.(?_2666868)_(2700917_?)del - - - SMCHD1_000000 no variants in TCOF1, POLR1D, POLR1C; negative by WES and Sanger seq of exons 3,8,9,10,12 PubMed: Shaw 2017, Journal: Shaw 2017 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 2 affecteds, parents not available (parents 2nd cousins), PatH1 M yes Morocco - - 0 - - 2 Johan den Dunnen
+/. c.(?_263-1)_(1647+1_?)del - r.? p.? _2i_12i_ Unknown - pathogenic (!) g.(?_2666868)_(2700917_?)del - - - SMCHD1_000000 no variants in TCOF1, POLR1D, POLR1C; negative by WES and Sanger seq of exons 3,8,9,10,12 PubMed: Shaw 2017, Journal: Shaw 2017 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 sister PatH2 F yes Morocco - - 0 - - 1 Johan den Dunnen
+/. c.(?_263-1)_(1647+1_?)del - r.? p.? _2i_12i_ Unknown - pathogenic (!) g.(?_2666868)_(2700917_?)del - - - SMCHD1_000000 negative by WES and Sanger seq of exons 3-12 PubMed: Shaw 2017, Journal: Shaw 2017 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 1 affected, parents not available M - - Middle Eastern - 0 - - 1 Johan den Dunnen
+/. c.(?_263-1)_(1647+1_?)del - r.? p.? _2i_12i_ Unknown - pathogenic (!) g.(?_2666868)_(2700917_?)del - - - SMCHD1_000000 negative by WES and Sanger seq of exons 3,8,9,10,12 PubMed: Shaw 2017, Journal: Shaw 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - BAMS - PubMed: Shaw 2017, Journal: Shaw 2017 2-generation family, 1 affected, parents not available, assumed inherited (4 relatives with nasal hypoplasia) M - Belgium - - 0 - - 1 Johan den Dunnen
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