Full data view for gene MYL3

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000258.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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     
+/. 3 c.170C>A pathogenic r.(?) p.(Ala57Asp) Parent #1 g.46902303G>T - - - MYL3_000019 not in 192 control chromosomes PubMed: Fokstuen 2008, PubMed: Fokstuen 2011 - - Unknown - - - 0 - DNA arraySEQ, SEQ - - CMH - PubMed: Fokstuen 2008, PubMed: Fokstuen 2011 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.170C>A VUS r.(?) p.(Ala57Asp) Unknown g.46902303G>T - MYL3(NM_000258.2):c.170C>A (p.A57D) - MYL3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.170C>A VUS r.(?) p.(Ala57Asp) Unknown g.46902303G>T - MYL3(NM_000258.2):c.170C>A (p.A57D) - MYL3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.170C>A likely pathogenic r.(?) p.(Ala57Asp) Unknown g.46902303G>T - MYL3(NM_000258.2):c.170C>A (p.A57D) - MYL3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.170C>A likely pathogenic r.(?) p.(Ala57Asp) Unknown g.46902303G>T - MYL3(NM_000258.2):c.170C>A (p.A57D) - MYL3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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