Unique variants in the POMGNT1 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/+? 1 9i c.879+5G>T r.spl p.? - pathogenic g.46659941C>A g.46194269C>A - - POMGNT1_000025 1 Finnish MDDGA3 (MEB) patient (com-het) - - - SUMMARY record - - - - - Anne Polvi
+/+ 1 17i c.1539+1G>A r.spl p.? - pathogenic g.46657769C>T g.46192097C>T IVS17+1G>A: Glu514read-through 526Stop/Leu472-His513del - POMGNT1_000002 1 more item - - - SUMMARY record - - - - - Anne Polvi
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