Full data view for gene TCTN1

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

58 entries on 1 page. Showing entries 1 - 58.
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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     
-?/. - c.20C>T r.(?) p.(Pro7Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.110C>G r.(?) p.(Ser37Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.220+12G>C r.(=) p.(=) Unknown - benign g.111052219G>C g.110614414G>C TCTN1(NM_001082538.2):c.220+12G>C - TCTN1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.220+1876G>T r.(=) p.(=) Unknown - likely benign g.111054083G>T - TCTN1(NM_001173976.2):c.-35G>T - TCTN1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.220+1939T>C r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.285C>T r.(?) p.(Pro95=) Unknown - likely benign g.111057705C>T - TCTN1(NM_001082538.3):c.285C>T (p.P95=) - TCTN1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.322T>C r.(?) p.(Cys108Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.327A>G r.(?) p.(Ser109=) Unknown - likely benign g.111057747A>G - TCTN1(NM_001082538.3):c.327A>G (p.S109=) - TCTN1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.341+1G>A r.spl p.? Unknown - VUS g.111057762G>A g.110619957G>A - - TCTN1_000033 - PubMed: Kroes 2016 - - Germline - - - - - DNA SEQ-NG-S blood - JBTS1 1-34 Pat11 PubMed: Kroes 2016 - - - - Europe-N - - - - 1 Sanne Savelberg
-?/. - c.341+10C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.341+135C>T r.(=) p.(=) Unknown - benign g.111057896C>T g.110620091C>T TCTN1(NM_001082538.3):c.341+135C>T - TCTN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.342-8A>G r.341_342insTTTTCAG p.Gly115Phefs*9 Maternal (confirmed) - pathogenic g.111064159A>G g.110626354A>G - - TCTN1_000001 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG BLOOD - JBTS - - - F yes China HAN - - - - 1 Jiang Wenting
+/. - c.342-2A>C r.spl p.? Parent #1 - pathogenic (recessive) g.111064165A>C g.110626360A>C - - TCTN1_000029 - PubMed: Srour 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - WES JBTS FamHSJ-JBTS-clin2PatHSJ-JBTS-2 PubMed: Srour 2015 - M - Canada French-Canadian - - - - 1 LOVD
+/. - c.342-2A>G r.spl? p.? Parent #1 - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.342-2A>G r.spl? p.? Both (homozygous) - pathogenic g.111064165A>G g.110626360A>G NM_001082538.2:c.342-2A>G - TCTN1_000025 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW270-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. 2i c.342-2A>G r.spl? p.G115Kfs*8 Unknown - pathogenic g.111064165A>G - c.342-2A>G - TCTN1_000025 - PubMed: alazami-2012 - - Germline yes - - - - DNA, RNA PCR, SEQ, RT-PCR blood - retinal disease - PubMed: alazami-2012 - - - Saudi Arabia - - - - - 2 LOVD
+/. 2i c.342-2A>G r.spl? p.G115Kfs*8 Unknown - pathogenic g.111064165A>G - c.342-2A>G - TCTN1_000025 - PubMed: alazami-2012 - - Germline yes - - - - DNA, RNA PCR, SEQ, RT-PCR blood - retinal disease - PubMed: alazami-2012 - M - Saudi Arabia - - - - - 1 LOVD
+/. - c.342-2A>G r.342_397del p.(Gly115Lysfs*8) Both (homozygous) - pathogenic g.111064165A>G g.110626360A>G TCTN1 c.342-2A>G, p.G115KfsX8 - TCTN1_000025 homozygous PubMed: Alazami 2012 - - Germline yes - - - - DNA SEQ-NG blood exome sequencing JBTS JS_F8-1 PubMed: Alazami 2012 - M yes - - - - - - 1 LOVD
+/. - c.342-2A>G r.342_397del p.(Gly115Lysfs*8) Both (homozygous) - pathogenic g.111064165A>G g.110626360A>G TCTN1 c.342-2A>G, p.G115KfsX8 - TCTN1_000025 homozygous PubMed: Alazami 2012 - - Germline yes - - - - DNA SEQ-NG blood exome sequencing JBTS JS_F8-2 PubMed: Alazami 2012 - F yes - - - - - - 1 LOVD
+/. - c.342-2A>G r.342_397del p.(Gly115Lysfs*8) Both (homozygous) - pathogenic g.111064165A>G g.110626360A>G TCTN1 c.342-2A>G, p.G115KfsX8 - TCTN1_000025 homozygous PubMed: Alazami 2012 - - Germline yes - - - - DNA SEQ-NG blood exome sequencing JBTS JS_F9 PubMed: Alazami 2012 - M yes - - - - - - 1 LOVD
-/. - c.473-10T>A r.(=) p.(=) Unknown - benign g.111066562T>A g.110628757T>A TCTN1(NM_024549.6):c.473-10T>A - TCTN1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.488C>A r.(?) p.(Ser163Tyr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.488C>A r.(?) p.(Ser163Tyr) Parent #1 - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
+/. - c.568G>T r.(?) p.(Glu190*) Unknown - pathogenic g.111066667G>T - TCTN1(NM_001082538.3):c.568G>T (p.E190*) - TCTN1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.570A>G r.(?) p.(Glu190=) Unknown - likely benign g.111066669A>G g.110628864A>G TCTN1(NM_001082538.3):c.570A>G (p.E190=), TCTN1(NM_001319681.1):c.36A>G (p.E12=) - TCTN1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.570A>G r.(?) p.(Glu190=) Unknown - likely benign g.111066669A>G - TCTN1(NM_001082538.3):c.570A>G (p.E190=), TCTN1(NM_001319681.1):c.36A>G (p.E12=) - TCTN1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.702_704del r.(?) p.(Asn235del) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.702_704del r.(?) p.(Asn235del) Unknown - VUS g.111070354_111070356del g.110632549_110632551del 698delATA - TCTN1_000006 - PubMed: Kroes 2016 - - Germline - - - - - DNA SEQ-NG - 22-gene panel retinal disease 1-56 PubMed: Kroes 2016 - - - - Europe-N - - - - 1 LOVD
-?/. - c.712+162C>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.720G>A r.(?) p.(Ala240=) Unknown - likely benign g.111072208G>A - TCTN1(NM_024549.5):c.720G>A (p.A240=) - TCTN1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.760G>A r.(?) p.(Glu254Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.780+198G>T r.(=) p.(=) Unknown - likely benign g.111072466G>T g.110634661G>T TCTN1(NM_001082538.2):c.713-9G>T, TCTN1(NM_001319681.1):c.179-9G>T - TCTN1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.780+291T>G r.(=) p.(=) Parent #1 - VUS g.111072559T>G g.110634754T>G NM_001082538.2:c.797T>G - TCTN1_000031 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel Healthy/Control ND13333 PubMed: Bachmann-Gagescu 2015 control - - - - - - - - 1 LOVD
-?/. - c.834G>A r.(?) p.(Gln278=) Unknown - likely benign g.111078220G>A - TCTN1(NM_001082538.3):c.876G>A (p.Q292=) - TCTN1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.852C>T r.(?) p.(Leu284=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.856C>T p.(Arg286*) p.(Arg286*) Parent #2 - pathogenic (recessive) g.111078242C>T - NM_001082538.2:c.898C>T (Arg300*) - TCTN1_000030 - PubMed: Srour 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - WES JBTS FamHSJ-JBTS-clin2PatHSJ-JBTS-2 PubMed: Srour 2015 - M - Canada French-Canadian - - - - 1 LOVD
?/. - c.898G>A r.(?) p.(Ala300Thr) Unknown - VUS g.111078284G>A - TCTN1(NM_001319681.1):c.406G>A (p.A136T) - TCTN1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.918C>T r.(?) p.(Cys306=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.997G>A r.(?) p.(Val333Ile) Parent #2 - VUS g.111078889G>A g.110641084G>A NM_001082538.2:c.1039G>A - TCTN1_000032 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel Healthy/Control ND13333 PubMed: Bachmann-Gagescu 2015 control - - - - - - - - 1 LOVD
-?/. - c.1018G>A r.(?) p.(Val340Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1187T>C r.(?) p.(Leu396Pro) Unknown - VUS g.111080092T>C - TCTN1(NM_001319681.1):c.695T>C (p.L232P) - TCTN1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1220G>A r.(?) p.(Cys407Tyr) Unknown - VUS g.111080125G>A - TCTN1(NM_001082538.3):c.1262G>A (p.(Cys421Tyr)) - TCTN1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1249G>C r.(?) p.(Val417Leu) Unknown - VUS g.111080154G>C g.110642349G>C TCTN1(NM_001082538.2):c.1291G>C (p.V431L) - TCTN1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1262A>G r.(?) p.(Tyr421Cys) Unknown - VUS g.111080167A>G - TCTN1(NM_001319681.1):c.770A>G (p.Y257C) - TCTN1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1337G>C r.(?) p.(Ser446Thr) Unknown - likely benign g.111082819G>C - TCTN1(NM_001082538.3):c.1379G>C (p.S460T) - TCTN1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1345T>C r.(?) p.(Trp449Arg) Unknown - VUS g.111082827T>C - TCTN1(NM_001319681.1):c.853T>C (p.W285R) - TCTN1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1354G>T r.(?) p.(Gly452Cys) Unknown - VUS g.111082836G>T g.110645031G>T TCTN1(NM_001082537.2):c.1396G>T (p.(Gly466Cys)), 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1354G>T r.(?) p.(Gly452Cys) Unknown - VUS g.111082836G>T g.110645031G>T TCTN1(NM_001082537.2):c.1396G>T (p.(Gly466Cys)), 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1354G>T r.(?) p.(Gly452Cys) Unknown - benign g.111082836G>T g.110645031G>T TCTN1(NM_001082537.2):c.1396G>T (p.(Gly466Cys)), 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1354G>T r.(?) p.(Gly452Cys) Parent #1 - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 228 Mohammed Faruq
-?/. - c.1354G>T r.(?) p.(Gly452Cys) Both (homozygous) - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
-?/. - c.1429A>T r.(?) p.(Ile477Phe) Unknown - likely benign g.111082911A>T - TCTN1(NM_001082538.3):c.1471A>T (p.I491F) - TCTN1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1474G>A r.(?) p.(Ala492Thr) Unknown - VUS g.111085037G>A g.110647232G>A - - TCTN1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12i c.1494+1G>A r.1494_1495insATAAAGGGGAGAAG p.Asp499Ilefs*16 Paternal (confirmed) - 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 - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood - JBTS - - - M yes China Han - - - - 1 Jiang Wenting
-/. - c.1579-152C>T r.(=) p.(=) Unknown - benign g.111085402C>T g.110647597C>T TCTN1(NM_024549.6):c.1579-152C>T - TCTN1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1579-13_1579-12del r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1579-13_1579-12del r.(?) p.? Unknown - VUS g.111085541_111085542del g.110647736_110647737del 1636-18delTC - TCTN1_000012 - PubMed: Kroes 2016 - - Germline - - - - - DNA SEQ-NG-S blood - JBTS1 1-48 Pat20 PubMed: Kroes 2016 - - - - Europe-N - - - - 1 Sanne Savelberg
-?/. - c.1683T>C r.(?) p.(Asn561=) Unknown - likely benign g.111085658T>C - TCTN1(NM_001319681.1):c.1191T>C (p.N397=) - TCTN1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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