Full data view for gene TECRL

Information The variants shown are described using the NM_001010874.4 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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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.(?_-914944)_(*1039992_?)dup r.(=) p.(=) Both (homozygous) - VUS g.(?_64105798)_(66190013_?)dup g.(?_63240080)_(65324295_?)dup 4q13.1 (64105798_66190013)×4 - TECRL_000027 ACMG PM2, PP4; probable complete gene duplication PubMed: Moscu-Gregor 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CPVT Fam4Pat5 PubMed: Moscu-Gregor 2020 2-generation family, 1 affected, unaffected parents, F - Germany - - - - - 1 Johan den Dunnen
?/. - c.124T>A r.(?) p.(Ser42Thr) Unknown - VUS g.65274946A>T - TECRL(NM_001010874.4):c.124T>A (p.S42T) - TECRL_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.125C>G r.(?) p.(Ser42*) Unknown - VUS g.65274945G>C - TECRL(NM_001010874.4):c.125C>G (p.S42*) - TECRL_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.133C>T r.(?) p.(Pro45Ser) Unknown - benign g.65274937G>A g.64409219G>A TECRL(NM_001010874.5):c.133C>T (p.P45S) - TECRL_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.287-5A>C r.spl? p.? Unknown - benign g.65194279T>G g.64328561T>G TECRL(NM_001010874.5):c.287-5A>C - TECRL_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i c.331+1G>A r.287_331del p.Pro97_Gly111del Both (homozygous) - likely pathogenic (recessive) g.65194229C>T g.64328511C>T - - TECRL_000023 - PubMed: Devalla 2016 - - Germline yes - - - - DNA RT-PCR, SEQ, SEQ-NG - WES LQT FamPatIV13 PubMed: Devalla 2016 4-generation family, 7 affected (3F, 4M), unaffected heterozygous carrier parents/relatives M - Sudan - - - - - 7 Johan den Dunnen
-?/. - c.376G>C r.(?) p.(Ala126Pro) Unknown - likely benign g.65188466C>G - TECRL(NM_001010874.5):c.376G>C (p.A126P) - TECRL_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.415C>T r.(?) p.(Gln139Ter) Both (homozygous) - pathogenic (recessive) g.65188427G>A g.64322709G>A - - TECRL_000032 ACMG PVS1, PM2, PP4 PubMed: Moscu-Gregor 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CPVT Fam1Pat1 PubMed: Moscu-Gregor 2020 5-generation family, 1 affected, unaffected heterozygous carrier parents M yes Germany white - - - - 1 Johan den Dunnen
?/. - c.434C>T r.(?) p.(Thr145Ile) Unknown - VUS g.65188408G>A g.64322690G>A TECRL(NM_001010874.5):c.434C>T (p.T145I) - TECRL_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.(?_435+3120)_(731-209_?)dup r.? p.? Paternal (inferred) - likely pathogenic (recessive) g.(?_65165944)_(65185287_?)dup g.(?_64300226)_(64319569_?)dup 4:65165944-65185287x3 - TECRL_000029 - PubMed: Jones 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CPVT patient PubMed: Jones 2024 2-generation family, 1 affected, unaffected heterozygous carrier mother M - United States - - - - - 1 Johan den Dunnen
-?/. - c.454A>G r.(?) p.(Thr152Ala) Unknown - likely benign g.65180463T>C - TECRL(NM_001010874.5):c.454A>G (p.T152A) - TECRL_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.454A>G r.(?) p.(Thr152Ala) Unknown - likely benign g.65180463T>C - TECRL(NM_001010874.5):c.454A>G (p.T152A) - TECRL_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.480C>T r.(?) p.(=) Unknown - benign g.65180437G>A - TECRL(NM_001010874.5):c.480C>T (p.L160=) - TECRL_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.551+14A>G r.(=) p.(=) Unknown - likely benign g.65180352T>C - TECRL(NM_001010874.5):c.551+14A>G - TECRL_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.551+15C>T r.(=) p.(=) Unknown - benign g.65180351G>A g.64314633G>A TECRL(NM_001010874.5):c.551+15C>T - TECRL_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.552-5dup r.spl? p.? Unknown - benign g.65175662dup g.64309944dup TECRL(NM_001010874.5):c.552-5dupT - TECRL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.552-5dup r.spl? p.? Unknown - likely benign g.65175662dup g.64309944dup TECRL(NM_001010874.5):c.552-5dupT - TECRL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.587G>A r.(?) p.(Arg196Gln) Both (homozygous) - likely pathogenic (recessive) g.65175614C>T g.64309896C>T Arg196Gln - TECRL_000022 - PubMed: Devalla 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CPVT Pat1 PubMed: Devalla 2016 - F yes Canada French-Canadian - - - - 1 Johan den Dunnen
+?/. - c.587G>A r.(?) p.(Arg196Gln) Both (homozygous) - likely pathogenic (recessive) g.65175614C>T g.64309896C>T - - TECRL_000022 - PubMed: Devalla 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES LQT Pat2 PubMed: Devalla 2016 - F - Canada French-Canadian - - - - 1 Johan den Dunnen
+/. - c.587G>A r.(?) p.(Arg196Gln) Maternal (confirmed) - likely pathogenic (recessive) g.65175614C>T g.64309896C>T - - TECRL_000022 - PubMed: Xie 2019 - rs958406908 Germline - - - - - DNA SEQ, SEQ-NG - WES CPVT FamPatII1 PubMed: Xie 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - 1 Johan den Dunnen
+/. - c.587G>A r.(?) p.(Arg196Gln) Paternal (confirmed) - pathogenic (recessive) g.65175614C>T g.64309896C>T - - TECRL_000022 - PubMed: Chen 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CPVT patient PubMed: Chen 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
+?/. - c.591C>A r.(?) p.(Tyr197Ter) Unknown - likely pathogenic g.65175610G>T - TECRL(NM_001010874.5):c.591C>A (p.Y197*) - TECRL_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.722C>T r.(?) p.(Thr241Ile) Unknown - VUS g.65170892G>A - TECRL(NM_001010874.5):c.722C>T (p.T241I) - TECRL_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.731C>R r.spl? p.(Ser244*) Both (homozygous) - pathogenic (recessive) g.65165735G>Y g.64300017G>Y S244Ter - TECRL_000030 variant homozygous or hemizygous PubMed: Kulbachinskaya 2024 - - Germline - - - - - DNA SEQ - - CPVT Pat12 PubMed: Kulbachinskaya 2024 - - - Russia - - - - - 1 Johan den Dunnen
-/. - c.774+13T>C r.(=) p.(=) Unknown - benign g.65165679A>G - TECRL(NM_001010874.5):c.774+13T>C - TECRL_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.797T>C r.(?) p.(Phe266Ser) Unknown - VUS g.65155463A>G g.64289745A>G TECRL(NM_001010874.5):c.797T>C (p.F266S) - TECRL_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.832+20_832+25dup r.(=) p.(=) Unknown - likely benign g.65155413_65155418dup - TECRL(NM_001010874.5):c.832+20_832+25dupTCTTTT - TECRL_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.844T>G r.(?) p.(Cys282Gly) Unknown - likely benign g.65147266A>C g.64281548A>C TECRL(NM_001010874.4):c.844T>G (p.C282G), TECRL(NM_001010874.5):c.844T>G (p.C282G, p.(Cys282Gly)) - TECRL_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.844T>G r.(?) p.(Cys282Gly) Unknown - VUS g.65147266A>C g.64281548A>C TECRL(NM_001010874.4):c.844T>G (p.C282G), TECRL(NM_001010874.5):c.844T>G (p.C282G, p.(Cys282Gly)) - TECRL_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.844T>G r.(?) p.(Cys282Gly) Unknown - VUS g.65147266A>C - TECRL(NM_001010874.4):c.844T>G (p.C282G), TECRL(NM_001010874.5):c.844T>G (p.C282G, p.(Cys282Gly)) - TECRL_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.868C>T r.(?) p.(Pro290Ser) Maternal (confirmed) - likely pathogenic (recessive) g.65147242G>A g.64281524G>A - - TECRL_000031 ACMG PM2,  PM3, PS3_sup PubMed: Chen 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CPVT patient PubMed: Chen 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
+?/. - c.869C>A r.(?) p.(Pro290His) Both (homozygous) - likely pathogenic (recessive) g.65147241G>T g.64281523G>T - - TECRL_000026 ACMG PM1, PM3, PP3, PP4 PubMed: Moscu-Gregor 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CPVT Fam3Pat3/4 PubMed: Moscu-Gregor 2020 2-generation family, 1 affected, unaffected parents, unaffected carrier children F;M - Germany - - - - - 2 Johan den Dunnen
?/. - c.893T>C r.(?) p.(Val298Ala) Unknown - VUS g.65147217A>G g.64281499A>G TECRL(NM_001010874.5):c.893T>C (p.V298A) - TECRL_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.893T>C r.(?) p.(Val298Ala) Maternal (confirmed) - likely pathogenic (recessive) g.65147217A>G g.64281499A>G - - TECRL_000009 ACMG PM1, PM3, PP3, PP4 PubMed: Moscu-Gregor 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - gene panel CPVT Fam2Pat2 PubMed: Moscu-Gregor 2020 2-generation family, 1 affected, unaffected parents, unaffected carrier children F - Germany - - - - - 1 Johan den Dunnen
+/. - c.915T>G r.(?) p.(Tyr305*) Maternal (confirmed) - likely pathogenic (recessive) g.65147195A>C g.64281477A>C - - TECRL_000028 - PubMed: Jones 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CPVT patient PubMed: Jones 2024 2-generation family, 1 affected, unaffected heterozygous carrier mother M - United States - - - - - 1 Johan den Dunnen
+/. 10i c.918+3A>C r.spl p.? Paternal (confirmed) - likely pathogenic (recessive) g.65147189T>G g.64281471T>G 918+3T>G - TECRL_000024 - PubMed: Xie 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CPVT FamPatII1 PubMed: Xie 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - 1 Johan den Dunnen
+/. - c.926C>A r.(?) p.(Ser309*) Paternal (inferred) - pathogenic (recessive) g.65146797G>T g.64281079G>T - - TECRL_000025 ACMG PVS1, PM2, PP4 PubMed: Moscu-Gregor 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - gene panel CPVT Fam2Pat2 PubMed: Moscu-Gregor 2020 2-generation family, 1 affected, unaffected parents, unaffected carrier children F - Germany - - - - - 1 Johan den Dunnen
?/. - c.928T>A r.(?) p.(Trp310Arg) Unknown - VUS g.65146795A>T - TECRL(NM_001010874.5):c.928T>A (p.W310R) - TECRL_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1013A>C r.(?) p.(Gln338Pro) Unknown - VUS g.65145869T>G - TECRL(NM_001010874.5):c.1013A>C (p.Q338P) - TECRL_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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