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.

5 entries on 1 page. Showing entries 1 - 5.
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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     
+/. 14 c.3325C>T r.(?) p.(Arg1109*) - - g.148389835G>A - - - SH3TC2_000019 - PubMed: Gooding 2005 - rs80338934 Germline - - - 0 - Johan den Dunnen
+/. - c.3325C>T r.(?) p.(Arg1109*) - pathogenic g.148389835G>A - SH3TC2(NM_024577.3):c.3325C>T (p.R1109*) - SH3TC2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.3325C>T r.(?) p.(Arg1109*) - pathogenic g.148389835G>A - SH3TC2(NM_024577.3):c.3325C>T (p.R1109*) - SH3TC2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.3325C>T r.(?) p.(Arg1109*) - - g.148389835G>A g.149010272G>A - - SH3TC2_000019 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs80338934 Germline - 2/2792 individuals - 0 - Mohammed Faruq
+/. - c.3325C>T r.(?) p.(Arg1109*) - pathogenic (recessive) g.148389835G>A g.149010272G>A - - SH3TC2_000019 - PubMed: Antoniadi 2015 - rs80338934 Germline - - - 0 - Johan den Dunnen
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