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)     

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.461G>A r.(?) p.(Arg154His) Unknown - pathogenic g.46900985C>T g.46859495C>T MYL3(NM_000258.2):c.461G>A (p.R154H) - MYL3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.461G>A r.(?) p.(Arg154His) Parent #1 - pathogenic g.46900985C>T g.46859495C>T - - MYL3_000003 not in 378 control/762 CMH chromosomes PubMed: Poetter 1996, OMIM:var0002 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Poetter 1996, OMIM:var0002 - M - - - - 0 - - 1 Johan den Dunnen
+?/. - c.461G>A r.(?) p.(Arg154His) Unknown - likely pathogenic g.46900985C>T g.46859495C>T MYL3(NM_000258.2):c.461G>A (p.R154H) - MYL3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.461G>A r.(?) p.(Arg154His) Unknown - likely pathogenic g.46900985C>T g.46859495C>T MYL3(NM_000258.2):c.461G>A (p.R154H) - MYL3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.461G>A r.(?) p.(Arg154His) Parent #1 - - g.46900985C>T g.46859495C>T - - MYL3_000003 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs104893749 Germline - 1/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
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