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.

9 entries on 1 page. Showing entries 1 - 9.
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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     
+/. 5 c.505T>C r.(?) p.(Tyr169His) - - g.148422281A>G - - - SH3TC2_000024 - PubMed: Lupski 2010 - rs80359890 Germline - - - 0 - Johan den Dunnen
?/. - c.505T>C r.(?) p.(Tyr169His) - VUS g.148422281A>G - SH3TC2(NM_024577.3):c.505T>C (p.Y169H) - SH3TC2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.505T>C r.(?) p.(Tyr169His) - VUS g.148422281A>G - SH3TC2(NM_024577.3):c.505T>C (p.Y169H) - SH3TC2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.505T>C r.(?) p.Tyr169His ACMG VUS g.148422281A>G - - - SH3TC2_000024 no second variant detected in SH3TC2; reported in Lupski (2010) N Engl J Med 362: 1181 Lupski (2013) Genome Med 5: 57; Rudnik-Schöneborn 2016. Neuromuscul Disord 26: 132 - - rs80359890 Germline - - - 0 - Andreas Laner
?/. - c.505T>C r.(?) p.(Tyr169His) - VUS g.148422281A>G - SH3TC2(NM_024577.3):c.505T>C (p.Y169H) - SH3TC2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.505T>C r.(?) p.(Tyr169His) - - g.148422281A>G g.149042718A>G - - SH3TC2_000024 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs80359890 Germline - 2/2790 individuals - 0 - Mohammed Faruq
-?/. - c.505T>C r.(?) p.(Tyr169His) - likely benign g.148422281A>G - - - SH3TC2_000024 ACMG grading: BS1,BP4,BP5; -; Rudnik-Schöneborn et al. 2016. Neuromuscul Disord 26: 132 - - rs80359890 Germline - - - 0 - Andreas Laner
+/. - c.505T>C r.(?) p.(Tyr169His) - pathogenic (recessive) g.148422281A>G g.149042718A>G - - SH3TC2_000024 - PubMed: Antoniadi 2015 - rs80359890 Germline - - - 0 - Johan den Dunnen
+/. - c.505T>C r.(?) p.(Tyr169His) - pathogenic (recessive) g.148422281A>G g.149042718A>G - - SH3TC2_000024 - PubMed: Antoniadi 2015 - rs80359890 Germline - - - 0 - Johan den Dunnen
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