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.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 4 c.445A>G pathogenic r.(?) p.(Met149Val) Parent #1 g.46901001T>C - - - MYL3_000002 not in 378 control/762 CMH chromosomes PubMed: Poetter 1996, OMIM:var0001 - - Germline - - NlaIII- 0 - DNA SEQ - - CMH - PubMed: Poetter 1996, OMIM:var0001 large 3-generation family, 13 affecteds - - - - - 0 - - 13 Johan den Dunnen
+/. 4 c.445A>G pathogenic r.(?) p.(Met149Val) Parent #1 g.46901001T>C - - - MYL3_000002 not in >200 control chromosomes PubMed: Arad 2005, OMIM:var0001 - - Germline - - NlaIII- 0 - DNA SEQ - - CMH - PubMed: Arad 2005, OMIM:var0001 large family, 12 affecteds F - - - - 0 - - 12 Johan den Dunnen
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