All transcript variants in gene MTMR14

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_001077525.2 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     

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     

Owner     
-?/. - c.1434-4G>A likely benign r.spl? p.? g.9731644G>A - MTMR14(NM_001077525.2):c.1434-4G>A (p.?) - MTMR14_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/- 16i c.1434-4G>A benign r.(=) p.(=) g.9731644G>A - - - MTMR14_000030 - PubMed: Tosch 2006 - - Germline - 0.01 - 0 - Johan den Dunnen
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