All variants in the TCTN1 gene

Information The variants shown are described using the NM_024549.5 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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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.20C>T r.(?) p.(Pro7Leu) - likely benign g.111052007C>T g.110614202C>T TCTN1(NM_001082538.2):c.20C>T (p.P7L) - TCTN1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.110C>G r.(?) p.(Ser37Cys) - VUS g.111052097C>G g.110614292C>G TCTN1(NM_001082538.2):c.110C>G (p.S37C) - TCTN1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.220+12G>C r.(=) p.(=) - benign g.111052219G>C g.110614414G>C TCTN1(NM_001082538.2):c.220+12G>C - TCTN1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.220+1939T>C r.(=) p.(=) - likely benign g.111054146T>C g.110616341T>C TCTN1(NM_001173976.1):c.29T>C (p.L10P) - TCTN1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.322T>C r.(?) p.(Cys108Arg) - VUS g.111057742T>C g.110619937T>C TCTN1(NM_001082537.2):c.322T>C (p.(Cys108Arg)) - TCTN1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.327A>G r.(?) p.(Ser109=) - likely benign g.111057747A>G - TCTN1(NM_001082538.3):c.327A>G (p.S109=) - TCTN1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.341+1G>A r.spl p.? - VUS g.111057762G>A g.110619957G>A - - TCTN1_000033 - PubMed: Kroes 2016 - - Germline - - - 0 - LOVD
-?/. - c.341+10C>T r.(=) p.(=) - likely benign g.111057771C>T g.110619966C>T TCTN1(NM_001319681.1):c.-367+10C>T - TCTN1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.341+135C>T r.(=) p.(=) - benign g.111057896C>T g.110620091C>T TCTN1(NM_001082538.3):c.341+135C>T - TCTN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. 2i c.342-8A>G r.341_342insTTTTCAG p.Gly115Phefs*9 - pathogenic g.111064159A>G g.110626354A>G - - TCTN1_000001 - - - - Germline - - - 0 - Jiang Wenting
+/. - c.342-2A>C r.spl p.? - pathogenic (recessive) g.111064165A>C g.110626360A>C - - TCTN1_000029 - PubMed: Srour 2015 - - Germline - - - 0 - LOVD
+/. - c.342-2A>G r.spl? p.? - pathogenic g.111064165A>G g.110626360A>G - - TCTN1_000025 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs730882221 Germline - 1/2795 individuals - 0 - Mohammed Faruq
+/. - c.342-2A>G r.spl? p.? - pathogenic g.111064165A>G g.110626360A>G NM_001082538.2:c.342-2A>G - TCTN1_000025 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
+/. 2i c.342-2A>G r.spl? p.G115Kfs*8 - pathogenic g.111064165A>G - c.342-2A>G - TCTN1_000025 - PubMed: alazami-2012 - - Germline yes - - 0 - LOVD
+/. 2i c.342-2A>G r.spl? p.G115Kfs*8 - pathogenic g.111064165A>G - c.342-2A>G - TCTN1_000025 - PubMed: alazami-2012 - - Germline yes - - 0 - LOVD
-/. - c.473-10T>A r.(=) p.(=) - benign g.111066562T>A g.110628757T>A TCTN1(NM_024549.6):c.473-10T>A - TCTN1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.488C>A r.(?) p.(Ser163Tyr) - benign g.111066587C>A g.110628782C>A TCTN1(NM_024549.6):c.488C>A (p.S163Y) - TCTN1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.488C>A r.(?) p.(Ser163Tyr) - likely benign g.111066587C>A g.110628782C>A - - TCTN1_000019 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117896500 Germline - 9/2794 individuals - 0 - Mohammed Faruq
-?/. - c.570A>G r.(?) p.(Glu190=) - likely benign g.111066669A>G g.110628864A>G TCTN1(NM_001319681.1):c.36A>G (p.E12=) - TCTN1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.702_704del r.(?) p.(Asn235del) - benign g.111070354_111070356del g.110632549_110632551del TCTN1(NM_024549.6):c.702_704delTAA (p.N235del) - TCTN1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.702_704del r.(?) p.(Asn235del) - VUS g.111070354_111070356del g.110632549_110632551del 698delATA - TCTN1_000006 - PubMed: Kroes 2016 - - Germline - - - 0 - LOVD
-?/. - c.712+162C>A r.(=) p.(=) - likely benign g.111070526C>A g.110632721C>A TCTN1(NM_024549.6):c.712+162C>A - TCTN1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.760G>A r.(?) p.(Glu254Lys) - likely benign g.111072248G>A g.110634443G>A TCTN1(NM_024549.5):c.760G>A (p.E254K) - TCTN1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.780+291T>G r.(=) p.(=) - VUS g.111072559T>G g.110634754T>G NM_001082538.2:c.797T>G - TCTN1_000031 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
-/. - c.852C>T r.(?) p.(Leu284=) - benign g.111078238C>T g.110640433C>T TCTN1(NM_001082538.2):c.894C>T (p.L298=) - TCTN1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.856C>T p.(Arg286*) p.(Arg286*) - pathogenic (recessive) g.111078242C>T - NM_001082538.2:c.898C>T (Arg300*) - TCTN1_000030 - PubMed: Srour 2015 - - Germline - - - 0 - LOVD
?/. - c.898G>A r.(?) p.(Ala300Thr) - VUS g.111078284G>A - TCTN1(NM_001319681.1):c.406G>A (p.A136T) - TCTN1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.918C>T r.(?) p.(Cys306=) - likely benign g.111078304C>T g.110640499C>T TCTN1(NM_001319681.1):c.426C>T (p.C142=) - TCTN1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.997G>A r.(?) p.(Val333Ile) - VUS g.111078889G>A g.110641084G>A NM_001082538.2:c.1039G>A - TCTN1_000032 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - LOVD
-?/. - c.1018G>A r.(?) p.(Val340Ile) - likely benign g.111078910G>A g.110641105G>A TCTN1(NM_001319681.1):c.526G>A (p.V176I) - TCTN1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1187T>C r.(?) p.(Leu396Pro) - VUS g.111080092T>C - TCTN1(NM_001319681.1):c.695T>C (p.L232P) - TCTN1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1249G>C r.(?) p.(Val417Leu) - VUS g.111080154G>C g.110642349G>C TCTN1(NM_001319681.1):c.757G>C (p.V253L) - TCTN1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1345T>C r.(?) p.(Trp449Arg) - VUS g.111082827T>C - TCTN1(NM_001319681.1):c.853T>C (p.W285R) - TCTN1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1354G>T r.(?) p.(Gly452Cys) - VUS g.111082836G>T g.110645031G>T TCTN1(NM_001082538.2):c.1396G>T (p.G466C), TCTN1(NM_001082538.3):c.1396G>T (p.G466C) - TCTN1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1354G>T r.(?) p.(Gly452Cys) - benign g.111082836G>T g.110645031G>T TCTN1(NM_001082538.2):c.1396G>T (p.G466C), TCTN1(NM_001082538.3):c.1396G>T (p.G466C) - TCTN1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1354G>T r.(?) p.(Gly452Cys) - likely benign g.111082836G>T g.110645031G>T - - TCTN1_000022 228 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs118096349 Germline - 228/2792 individuals - 0 - Mohammed Faruq
-?/. - c.1354G>T r.(?) p.(Gly452Cys) - likely benign g.111082836G>T g.110645031G>T - - TCTN1_000022 6 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs118096349 Germline - 6/2792 individuals - 0 - Mohammed Faruq
?/. - c.1474G>A r.(?) p.(Ala492Thr) - VUS g.111085037G>A g.110647232G>A - - TCTN1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 12i c.1494+1G>A r.1494_1495insATAAAGGGGAGAAG p.Asp499Ilefs*16 - pathogenic g.111085058G>A g.110647253G>A - - TCTN1_000002 Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - - Germline - - - 0 - Jiang Wenting
-/. - c.1579-152C>T r.(=) p.(=) - benign g.111085402C>T g.110647597C>T TCTN1(NM_024549.6):c.1579-152C>T - TCTN1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1579-13_1579-12del r.(=) p.(=) - likely benign g.111085541_111085542del g.110647736_110647737del TCTN1(NM_001082538.2):c.1636-13_1636-12delCT - TCTN1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1579-13_1579-12del r.(?) p.? - VUS g.111085541_111085542del g.110647736_110647737del 1636-18delTC - TCTN1_000012 - PubMed: Kroes 2016 - - Germline - - - 0 - LOVD
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