All transcript variants in gene SH3TC2

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_024577.3 transcript reference sequence.

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

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     
+/. - c.1747_1748del r.(?) p.(Arg583Alafs*4) - pathogenic g.148407547_148407548del g.149027984_149027985del - - SH3TC2_000002 - - - - Germline - - - 0 - Andreas Laner
+/. 11 c.1747_1748del r.(?) p.(Arg583Alafs*4) - - g.148407547_148407548del g.149027984_149027985del 1747_1748delAG - SH3TC2_000002 - PubMed: Senderek 2003 - - Germline - - - 0 - Johan den Dunnen
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