Full data view for gene MYBPC3

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000256.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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     
+/. - c.3181C>T r.(?) p.(Gln1061Ter) Unknown - pathogenic g.47355117G>A g.47333566G>A MYBPC3(NM_000256.3):c.3181C>T (p.Q1061*) - MYBPC3_000264 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3181C>T r.(?) p.(Gln1061Ter) Unknown - pathogenic g.47355117G>A g.47333566G>A MYBPC3(NM_000256.3):c.3181C>T (p.Q1061*) - MYBPC3_000264 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 29 c.3181C>T r.(?) p.(Gln1061*) Unknown - pathogenic g.47355117G>A g.47333566G>A Gln1061X - MYBPC3_000264 not in 110 controls PubMed: Jaaskelainen 2002 - - Germline - - - - - DNA PCR, Southern, SSCA - - CMH 12110947 PubMed: Jaaskelainen 2002 - - - Finland - - - - - 1 Peikuan Cong
+?/. 29 c.3181C>T r.(?) p.(Gln1061*) Unknown - likely pathogenic g.47355117G>A g.47333566G>A - - MYBPC3_000264 not in 53 controls; PubMed: Poutanen 2006 - - Unknown - 6/53 patients - - - DNA SEQ - - CMH 16504640 PubMed: Poutanen 2006 - - - Finland - - - - - 1 Peikuan Cong
+/. 29 c.3181C>T r.(?) p.(Gln1061*) Unknown - pathogenic g.47355117G>A g.47333566G>A - - MYBPC3_000264 - PubMed: Jaaskelainen 2004 - - Unknown - 6/35 patients - - - DNA SEQ, SSCA - - CMH 15000344 PubMed: Jaaskelainen 2004 - - - Finland east - - - - 1 Peikuan Cong
+/. 29 c.3181C>T r.(?) p.(Gln1061*) Parent #1 - pathogenic g.47355117G>A g.47333566G>A U91629.1:20082C>T - MYBPC3_000264 genepath.med.harvard.edu/~seidman/cg3/genes/MYBPC3_info.html Caramins (Sydney, Australia) July 2003 - - Unknown - - - - - DNA SEQ - - CM - Caramins (Sydney, Australia) July 2003 - - - - - - - - - 1 Johan den Dunnen
+/. - c.3181C>T r.(?) p.(Gln1061*) Unknown - pathogenic g.47355117G>A g.47333566G>A - - MYBPC3_000264 - PubMed: Walsh 2017 - - Germline - 3/3267 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - 3 Johan den Dunnen
+/. - c.3181C>T r.(?) p.(Gln1061*) Unknown - pathogenic g.47355117G>A g.47333566G>A - - MYBPC3_000264 - PubMed: Walsh 2017 - - Germline - 1/2912 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 1 Johan den Dunnen
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