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     
?/. - c.3472G>A r.(?) p.(Val1158Ile) - VUS g.148388420C>T g.149008857C>T - - SH3TC2_000033 - - - rs55853803 Germline - - - 0 - Andreas Laner
-/. - c.3472G>A r.(?) p.(Val1158Ile) - benign g.148388420C>T g.149008857C>T - - SH3TC2_000033 - - - rs55853803 Germline - - - 0 - Andreas Laner
-/. - c.3472G>A r.(?) p.(Val1158Ile) - benign g.148388420C>T - SH3TC2(NM_024577.3):c.3472G>A (p.V1158I) - SH3TC2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.3472G>A r.(?) p.(Val1158Ile) - benign g.148388420C>T - SH3TC2(NM_024577.3):c.3472G>A (p.V1158I) - SH3TC2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.3472G>A r.(?) p.(Val1158Ile) - - g.148388420C>T g.149008857C>T - - SH3TC2_000033 211 heterozygous, 8 homozygous; Clinindb (India) Faruq 2020, submtted - rs55853803 Germline - 219/2575 individuals - 0 - Mohammed Faruq
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