Full data view for gene MYH7

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000257.2 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.77C>T VUS r.(?) p.(Ala26Val) Unknown g.23902865G>A - MYH7(NM_000257.2):c.77C>T (p.A26V) - MYH7_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.77C>T VUS r.(?) p.(Ala26Val) Unknown g.23902865G>A - MYH7(NM_000257.2):c.77C>T (p.A26V) - MYH7_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.77C>T pathogenic r.(?) p.(Ala26Val) Unknown g.23902865G>A - - - MYH7_000046 - PubMed: Song 2005 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Song 2005 - - - - - - 0 - - 1 Johan den Dunnen
+?/. 3 c.77C>T likely pathogenic r.(?) p.(Ala26Val) Unknown g.23902865G>A - - - MYH7_000046 - PubMed: Wang 2008 - - Germline - - - 0 - DNA PCR, SEQ, SSCA - - CMH 19645038 PubMed: Wang 2008 - - - China - - 0 - - 1 Peikuan Cong
+/. 3 c.77C>T pathogenic r.(?) p.(Ala26Val) Parent #1 g.23902865G>A - X52889.1:4470C>T - MYH7_000046 - Koyanagi Circulation 1996 94:I110 - - Unknown - - - 0 - DNA SEQ - - CMH - Koyanagi Circulation 1996 94:I110 - - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.77C>T likely pathogenic r.(?) p.(Ala26Val) Parent #1 g.23902865G>A - A26V - MYH7_000046 - PubMed: Matsushita 2007 - - Germline - - - 0 - DNA SEQ - - CMH FamBPatI2 PubMed: Matsushita 2007 2-generation family, 4 affected heterozygous carriers (F, 3M) F no Japan - - 0 - - 1 Johan den Dunnen
?/. - c.77C>T VUS r.(?) p.(Ala26Val) Unknown g.23902865G>A - MYH7(NM_000257.2):c.77C>T (p.A26V) - MYH7_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.77C>T likely benign r.(?) p.(Ala26Val) Unknown g.23902865G>A - MYH7(NM_000257.2):c.77C>T (p.A26V) - MYH7_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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