Full data view for 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.

31 entries on 1 page. Showing entries 1 - 31.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 11 c.2860C>T r.(?) p.(Arg954*) Unknown - pathogenic g.148406435G>A g.149026872G>A - - SH3TC2_000016 - PubMed: Senderek 2003 - rs80338933 Germline - - - - - DNA SEQ - - CMT - PubMed: Senderek 2003 - - - - - - - - - 1 Johan den Dunnen
+/. - c.2860C>T r.(?) p.(Arg954Ter) Unknown - pathogenic g.148406435G>A g.149026872G>A SH3TC2(NM_024577.3):c.2860C>T (p.R954*, p.(Arg954*)), SH3TC2(NM_024577.4):c.2860C>T (p.R954*) - SH3TC2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2860C>T r.(?) p.(Arg954Ter) Unknown - pathogenic g.148406435G>A g.149026872G>A SH3TC2(NM_024577.3):c.2860C>T (p.R954*, p.(Arg954*)), SH3TC2(NM_024577.4):c.2860C>T (p.R954*) - SH3TC2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2860C>T r.(?) p.(Arg954*) Unknown - pathogenic g.148406435G>A g.149026872G>A - - SH3TC2_000016 - - - - Germline yes - - - - DNA SEQ-NG - - CMT - - - F no France - 29y - - - 1 Justine Lerat
+/. - c.2860C>T r.(?) p.(Arg954*) Parent #1 - pathogenic g.148406435G>A g.149026872G>A - - SH3TC2_000016 - - - - Germline yes - - - - DNA SEQ-NG - - CMT - - - F no France - 68y - - - 1 Justine Lerat
+/. - c.2860C>T r.(?) p.Arg954* Unknown ACMG pathogenic g.148406435G>A g.149026872G>A - - SH3TC2_000016 ACMG grading: PM2,PM3,PVS1; recessive MOI for CMT, no second variant in SH3TC2 detected; postulated mechanism for dominant inheritance of missense variants in a toxic gain-of function; reported in Senderek 2003. AmJHumGenet 73: 1106; Baets 2001. Brain 134: 2664 Lupski 2013. GenomeMed 5: 57 Lupski 2010. NEnglJMed 362: 1181 - - rs80338933 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
+/. - c.2860C>T r.(?) p.Arg954* Unknown ACMG pathogenic g.148406435G>A g.149026872G>A - - SH3TC2_000016 ACMG grading: PVS1,PM2,PM3; not regarded causative for phenotype in patient; co-occurrence with pathogenic variant in AARS (c.986G>A:p.Arg329His).; reported in Senderek 2003. AmJHumGenet 73: 1106; Baets 2001. Brain 134: 2664 Lupski 2013. GenomeMed 5: 57 Lupski 2010. NEnglJMed 362: 1181 - - rs80338933 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
+/. - c.2860C>T r.(?) p.(Arg954*) Parent #2 - pathogenic g.148406435G>A g.149026872G>A - - SH3TC2_000016 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - - - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat90 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - - - - 1 Johan den Dunnen
+/. - c.2860C>T r.(?) p.(Arg954*) Parent #1 - pathogenic g.148406435G>A g.149026872G>A - - SH3TC2_000016 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat92 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - 1 Johan den Dunnen
+/. - c.2860C>T r.(?) p.(Arg954*) Both (homozygous) - pathogenic g.148406435G>A g.149026872G>A - - SH3TC2_000016 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat93 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - - - - 1 Johan den Dunnen
+/. - c.2860C>T r.(?) p.(Arg954*) Unknown ACMG pathogenic g.148406435G>A g.149026872G>A - - SH3TC2_000016 ACMG grading: PM3, PVS1, PM2; variant reported in Senderek 2003. AmJHumGenet 73: 1106; Baets 2001. Brain 134: 2664; Lupski 2013. GenomeMed 5: 57; Lupski 2010. NEnglJMed 362: 1181 - - rs80338933 Germline - - - - - DNA SEQ-NG-S - - - - - - M - - - - - - - 1 Andreas Laner
+?/. - c.2860C>T r.(?) p.(Arg954*) Parent #1 - likely pathogenic g.148406435G>A g.149026872G>A - - SH3TC2_000016 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs80338933 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.2860C>T r.(?) p.(Arg954*) Both (homozygous) ACMG pathogenic g.148406435G>A g.149026872G>A - - SH3TC2_000016 Senderek et al. 2003. Am J Hum Genet 73: 1106; Lupski et al. 2010. N Engl J Med 362: 1181; Baets et al. 2011. Brain 134: 2664; Hoyer et al. 2014. Biomed Res Int 2014: 210401 - - rs80338933 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+/. - c.2860C>T r.(?) p.(Arg954*) Unknown - pathogenic (recessive) g.148406435G>A g.149026872G>A - - SH3TC2_000016 - PubMed: Antoniadi 2015 - rs80338933 Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT Pat-SH3TC2-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.2860C>T r.(?) p.(Arg954*) Unknown - pathogenic (recessive) g.148406435G>A g.149026872G>A - - SH3TC2_000016 - PubMed: Antoniadi 2015 - rs80338933 Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT Pat-SH3TC2-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.2860C>T r.(?) p.(Arg954*) Unknown - pathogenic (recessive) g.148406435G>A g.149026872G>A - - SH3TC2_000016 - PubMed: Antoniadi 2015 - rs80338933 Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT Pat-SH3TC2-c PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.2860C>T r.(?) p.(Arg954*) Unknown - pathogenic (recessive) g.148406435G>A g.149026872G>A - - SH3TC2_000016 - PubMed: Antoniadi 2015 - rs80338933 Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT Pat-SH3TC2-d PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.2860C>T r.(?) p.(Arg954*) Unknown - pathogenic (recessive) g.148406435G>A g.149026872G>A - - SH3TC2_000016 - PubMed: Antoniadi 2015 - rs80338933 Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT Pat-SH3TC2-e PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.2860C>T r.(?) p.(Arg954*) Unknown - pathogenic (recessive) g.148406435G>A g.149026872G>A - - SH3TC2_000016 - PubMed: Antoniadi 2015 - rs80338933 Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT Pat-SH3TC2-f PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.2860C>T r.(?) p.(Arg954*) Unknown - pathogenic (recessive) g.148406435G>A g.149026872G>A - - SH3TC2_000016 - PubMed: Antoniadi 2015 - rs80338933 Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT Pat-SH3TC2-g PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.2860C>T r.(?) p.(Arg954*) Unknown - pathogenic (recessive) g.148406435G>A g.149026872G>A - - SH3TC2_000016 - PubMed: Antoniadi 2015 - rs80338933 Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT Pat-SH3TC2-h PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.2860C>T r.(?) p.(Arg954*) Unknown - pathogenic (recessive) g.148406435G>A g.149026872G>A - - SH3TC2_000016 - PubMed: Antoniadi 2015 - rs80338933 Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT Pat-SH3TC2-i PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.2860C>T r.(?) p.(Arg954*) Unknown - pathogenic (recessive) g.148406435G>A g.149026872G>A - - SH3TC2_000016 - PubMed: Antoniadi 2015 - rs80338933 Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT Pat-SH3TC2-j PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.2860C>T r.(?) p.(Arg954*) Unknown - pathogenic (recessive) g.148406435G>A g.149026872G>A - - SH3TC2_000016 - PubMed: Antoniadi 2015 - rs80338933 Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT Pat-SH3TC2-k PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.2860C>T r.(?) p.(Arg954*) Unknown - pathogenic (recessive) g.148406435G>A g.149026872G>A - - SH3TC2_000016 - PubMed: Antoniadi 2015 - rs80338933 Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT Pat-SH3TC2-l PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.2860C>T r.(?) p.(Arg954*) Unknown - pathogenic (recessive) g.148406435G>A g.149026872G>A - - SH3TC2_000016 - PubMed: Antoniadi 2015 - rs80338933 Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT Pat-SH3TC2-m PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.2860C>T r.(?) p.(Arg954Ter) Unknown - pathogenic g.148406435G>A - SH3TC2(NM_024577.3):c.2860C>T (p.R954*, p.(Arg954*)), SH3TC2(NM_024577.4):c.2860C>T (p.R954*) - SH3TC2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2860C>T r.(?) p.(Arg954*) Unknown - pathogenic g.148406435G>A - - - SH3TC2_000016 - Senderek et al. 2003. AmJHumGenet 73: 1106; Baets et al. 2001. Brain 134: 2664; Lupski et al. 2013. GenomeMed 5: 57; Lupski et al. 2010. NEnglJMed 362: 1181 - rs80338933 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+/. - c.2860C>T r.(?) p.(Arg954Ter) Unknown - pathogenic g.148406435G>A - SH3TC2(NM_024577.3):c.2860C>T (p.R954*, p.(Arg954*)), SH3TC2(NM_024577.4):c.2860C>T (p.R954*) - SH3TC2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.2860C>T r.(?) p.(Arg954*) Unknown - pathogenic g.148406435G>A - c.2860C>T + c.3377T>C - SH3TC2_000016 - - - rs80338933 Germline - - - - - DNA SEQ, SEQ-NG peripheral blood - retinal disease XVII PubMed: Lerat-2019 - F - France French - - - - 1 LOVD
+?/. - c.2860C>T r.(?) p.(Arg954Ter) Unknown - likely pathogenic g.148406435G>A - SH3TC2(NM_024577.3):c.2860C>T (p.R954*, p.(Arg954*)), SH3TC2(NM_024577.4):c.2860C>T (p.R954*) - SH3TC2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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