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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/. 11 c.2642A>G r.(?) p.(Asn881Ser) - - g.148406653T>C - - - SH3TC2_000013 - PubMed: Azzedine 2006 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.2642A>G r.(?) p.(Asn881Ser) - likely pathogenic g.148406653T>C - SH3TC2(NM_024577.3):c.2642A>G (p.N881S) - SH3TC2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.2642A>G r.(?) p.(Asn881Ser) - - g.148406653T>C - - - SH3TC2_000013 - - - - Germline yes - - 0 - Justine Lerat
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