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.

3 entries on 1 page. Showing entries 1 - 3.
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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>G likely pathogenic r.(?) p.(Ala57Gly) Parent #1 g.46902303G>C - - - MYL3_000008 not in 500 control chromosomes PubMed: Lee 2001 - - Germline - - - 0 - DNA SEQ - - CMH 11174330-SM101 PubMed: Lee 2001 3-generation family, 4-affecteds, 8 unaffected carriers - - Korea - - 0 - - 12 Johan den Dunnen
+?/. 3 c.170C>G likely pathogenic r.(?) p.(Ala57Gly) Parent #1 g.46902303G>C - - - MYL3_000008 not in 500 control chromosomes PubMed: Lee 2001 - - Germline - - - 0 - DNA SEQ - - CMH 11174330-SM325 PubMed: Lee 2001 2-generation family, affected father and son - - Korea - - 0 - - 2 Johan den Dunnen
+?/. 3 c.170C>G likely pathogenic r.(?) p.(Ala57Gly) Parent #1 g.46902303G>C - - - MYL3_000008 - PubMed: Lee 2001 - - Unknown - - - 0 - DNA SEQ - - CMH 11174330-J0831 PubMed: Lee 2001 - M - Japan - >54y 0 - - 1 Johan den Dunnen
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