All transcript variants in gene POMT2

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_013382.5 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     

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     
?/. 9 c.1045C>T VUS r.(?) p.(Arg349Trp) g.77762578G>A - - - POMT2_000143 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 9 c.1045C>T VUS r.(?) p.(Arg349Trp) g.77762578G>A - - - POMT2_000143 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 9 c.1045C>T VUS r.(?) p.(Arg349Trp) g.77762578G>A - - - POMT2_000143 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
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