Full data view for gene TBC1D32

Information The variants shown are described using the NM_152730.4 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

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Disease     

ID_report     

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Age at death     

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Data_av     

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Owner     
-?/. - c.454C>T r.(?) p.(Arg152Cys) Unknown - likely benign g.121638682G>A g.121317536G>A TBC1D32(NM_152730.4):c.454C>T (p.(Arg152Cys)) - TBC1D32_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.470C>T r.(?) p.(Ser157Phe) Unknown - likely benign g.121638666G>A g.121317520G>A TBC1D32(NM_152730.4):c.470C>T (p.(Ser157Phe)) - TBC1D32_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.604C>G r.(?) p.(Pro202Ala) Unknown - likely benign g.121629208G>C g.121308062G>C TBC1D32(NM_152730.4):c.604C>G (p.(Pro202Ala)) - TBC1D32_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.642_643del r.(?) p.(Cys215ArgfsTer11) Unknown - VUS g.121629173_121629174del g.121308027_121308028del TBC1D32(NM_152730.5):c.642_643delCT (p.C215Rfs*11), TBC1D32(NM_152730.6):c.642_643delCT (p.C215Rfs*11) - TBC1D32_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.642_643del r.(?) p.(Cys215ArgfsTer11) Unknown - pathogenic g.121629173_121629174del - TBC1D32(NM_152730.5):c.642_643delCT (p.C215Rfs*11), TBC1D32(NM_152730.6):c.642_643delCT (p.C215Rfs*11) - TBC1D32_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.725T>C r.(?) p.(Leu242Ser) Unknown - likely benign g.121625945A>G g.121304799A>G TBC1D32(NM_152730.4):c.725T>C (p.(Leu242Ser)) - TBC1D32_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12i c.1372+1G>T r.1232_1372del p.Arg411_Gly458delinsSer Both (homozygous) - pathogenic g.121613198C>A g.121292052C>A - - TBC1D32_000001 not in 250 exomes nor 192 control chromosomes PubMed: Adly 2014, Journal: Adly 2014 - - Germline yes - - - - DNA, RNA arraySNP, RT-PCR, SEQ, SEQ-NG - - OFD9 24285566-Fam1PatIV1 PubMed: Adly 2014, Journal: Adly 2014 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Saudi Arabia Arab 00y06m - - - 1 Fowzan Alkuraya
+/. - c.1372+1G>T r.1232_1372del p.(Arg411_Gly458delinsSer) Both (homozygous) - pathogenic (recessive) g.121613198C>A g.121292052C>A - - TBC1D32_000001 - PubMed: Patel 2017 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - MCOP F55‐M PubMed: Patel 2017 patient - yes Saudi Arabia - - - - - 1 LOVD
?/. - c.1466A>T r.(?) p.(Glu489Val) Unknown - VUS g.121602832T>A g.121281686T>A TBC1D32(NM_152730.4):c.1466A>T (p.(Glu489Val)) - TBC1D32_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1513A>T r.(?) p.(Ser505Cys) Unknown - likely benign g.121602785T>A g.121281639T>A TBC1D32(NM_152730.4):c.1513A>T (p.(Ser505Cys)) - TBC1D32_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1561A>G r.(?) p.(Ile521Val) Unknown - likely benign g.121602737T>C - TBC1D32(NM_001367759.1):c.1561A>G (p.I521V) - TBC1D32_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1591T>G r.(?) p.(Leu531Val) Unknown - likely benign g.121602707A>C g.121281561A>C TBC1D32(NM_152730.4):c.1591T>G (p.(Leu531Val)) - TBC1D32_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2104G>A r.(?) p.(Ala702Thr) Unknown - VUS g.121563400C>T - TBC1D32(NM_152730.4):c.2104G>A (p.(Ala702Thr)) - TBC1D32_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2308A>G r.(?) p.(Arg770Gly) Unknown - likely benign g.121560272T>C g.121239126T>C TBC1D32(NM_152730.4):c.2308A>G (p.(Arg770Gly)) - TBC1D32_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2332C>A r.(?) p.(Pro778Thr) Unknown - VUS g.121560248G>T - TBC1D32(NM_152730.4):c.2332C>A (p.(Pro778Thr)) - TBC1D32_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2431C>A r.(?) p.(Leu811Ile) Unknown - likely benign g.121544432G>T - TBC1D32(NM_152730.4):c.2431C>A (p.(Leu811Ile)) - TBC1D32_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2527C>T r.(?) p.(Arg843Cys) Unknown - VUS g.121526264G>A - TBC1D32(NM_001367759.1):c.2527C>T (p.R843C) - TBC1D32_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2555A>G r.(?) p.(His852Arg) Unknown - VUS g.121526236T>C - TBC1D32(NM_152730.6):c.2555A>G (p.(His852Arg)) - TBC1D32_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2673C>T r.(?) p.(Leu891=) Unknown - likely benign g.121482100G>A - TBC1D32(NM_001367759.1):c.2796C>T (p.L932=) - TBC1D32_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2808A>T r.(?) p.(Lys936Asn) Unknown - VUS g.121452864T>A - TBC1D32(NM_152730.6):c.2808A>T (p.K936N) - TBC1D32_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3088G>T r.(?) p.(Ala1030Ser) Unknown - VUS g.121434289C>A - TBC1D32(NM_001367759.1):c.3211G>T (p.A1071S) - TBC1D32_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3314T>C r.(?) p.(Leu1105Pro) Unknown - VUS g.121433661A>G - TBC1D32(NM_152730.6):c.3314T>C (p.(Leu1105Pro)) - TBC1D32_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3667C>T r.(?) p.(His1223Tyr) Unknown - likely benign g.121402024G>A g.121080878G>A TBC1D32(NM_152730.4):c.3667C>T (p.(His1223Tyr)) - TBC1D32_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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