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.

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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.1862G>A r.(?) p.(Arg621His) - - g.148407433C>T g.149027870C>T - - SH3TC2_000107 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs143032801 Germline - 2/2792 individuals - 0 - Mohammed Faruq
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