Full data view for gene TDRD7

Information The variants shown are described using the NM_014290.2 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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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     
+/. 2i_4i c.(208-742_563+618)::[NM_004959.4:(-181_*1522)] r.? p.? Unknown - pathogenic g.(100192473_100195138)_(127243515_127269693)inv - - 46,XY,inv(9)(q22.33q34.11) TDRD7_000013 - PubMed: Lachke 2011 - - Germline/De novo (untested) - - - - - DNA FISH, microscope - - ? DGAP186 PubMed: Lachke 2011 - rM - United States - - - - - 1 Johan den Dunnen
-?/. - c.33A>G r.(?) p.(Leu11=) Unknown - likely benign g.100190780A>G g.97428498A>G - - TDRD7_000028 - PubMed: Li 2019 - rs1381532 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam2PatII1 PubMed: Li 2019 2-generation family, affected mother/2 daughters F - China - - - - - 3 Johan den Dunnen
-?/. - c.33A>G r.(?) p.(Leu11=) Both (homozygous) - likely benign g.100190780A>G g.97428498A>G - - TDRD7_000028 - PubMed: Li 2019 - rs1381532 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam3PatIV1 PubMed: Li 2019 4-generation family, 5 affected (5F) F - China - - - - - 5 Johan den Dunnen
-?/. - c.33A>G r.(?) p.(Leu11=) Unknown - likely benign g.100190780A>G g.97428498A>G - - TDRD7_000028 - PubMed: Li 2019 - rs1381532 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam4PatIV1 PubMed: Li 2019 4-generation family, 4 affected (2F, 2M) F - China - - - - - 4 Johan den Dunnen
-?/. - c.60T>C r.(?) p.(Asn20=) Unknown - likely benign g.100190807T>C - TDRD7(NM_014290.2):c.60T>C (p.N20=) - TDRD7_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.83A>C r.(?) p.(Gln28Pro) Parent #1 - pathogenic g.100190830A>C g.97428548A>C - - TDRD7_000029 - PubMed: Li 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Pat62 PubMed: Li 2016 - - - China - - - - - 1 Johan den Dunnen
-?/. - c.231C>T r.(?) p.(Cys77=) Unknown - likely benign g.100193238C>T - TDRD7(NM_014290.2):c.231C>T (p.C77=) - TDRD7_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.328dup r.(?) p.(Thr110Asnfs*30) Both (homozygous) - pathogenic (recessive) g.100193335dup g.97431053dup 324_325insA - TDRD7_000015 - PubMed: Tan 2019 - - Germline yes - - - - DNA SEQ - - ? Fam1PatIV3 PubMed: Tan 2019 5-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes China Han - - - - 2 Johan den Dunnen
-?/. - c.391A>G r.(?) p.(Asn131Asp) Unknown - likely benign g.100194348A>G g.97432066A>G - - TDRD7_000030 - PubMed: Li 2019 - rs200841827 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam1PatII1 PubMed: Li 2019 2-generation family, affected mother/son M - China - - - - - 2 Johan den Dunnen
?/. - c.437A>G r.(?) p.(Lys146Arg) Unknown - VUS g.100194394A>G - TDRD7(NM_014290.2):c.437A>G (p.K146R) - TDRD7_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.449T>C r.(?) p.(Val150Ala) Both (homozygous) - likely benign g.100194406T>C g.97432124T>C - - TDRD7_000031 - PubMed: Li 2019 - rs2045732 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam1PatII1 PubMed: Li 2019 2-generation family, affected mother/son M - China - - - - - 2 Johan den Dunnen
-?/. - c.449T>C r.(?) p.(Val150Ala) Unknown - likely benign g.100194406T>C g.97432124T>C - - TDRD7_000031 - PubMed: Li 2019 - rs2045732 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam2PatII1 PubMed: Li 2019 2-generation family, affected mother/2 daughters F - China - - - - - 3 Johan den Dunnen
-?/. - c.449T>C r.(?) p.(Val150Ala) Both (homozygous) - likely benign g.100194406T>C g.97432124T>C - - TDRD7_000031 - PubMed: Li 2019 - rs2045732 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam3PatIV1 PubMed: Li 2019 4-generation family, 5 affected (5F) F - China - - - - - 5 Johan den Dunnen
-?/. - c.449T>C r.(?) p.(Val150Ala) Unknown - likely benign g.100194406T>C g.97432124T>C - - TDRD7_000031 - PubMed: Li 2019 - rs2045732 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam4PatIV1 PubMed: Li 2019 4-generation family, 4 affected (2F, 2M) F - China - - - - - 4 Johan den Dunnen
-?/. - c.484A>G r.(?) p.(Met162Val) Unknown - likely benign g.100194441A>G g.97432159A>G TDRD7(NM_014290.2):c.484A>G (p.M162V) - TDRD7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.564-10A>T r.(=) p.(=) Unknown - likely benign g.100201517A>T g.97439235A>T TDRD7(NM_014290.2):c.564-10A>T - TDRD7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.564-9A>T r.(=) p.(=) Unknown - likely benign g.100201518A>T g.97439236A>T TDRD7(NM_014290.2):c.564-9A>T - TDRD7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.564-7A>T r.(=) p.(=) Unknown - likely benign g.100201520A>T g.97439238A>T TDRD7(NM_014290.2):c.564-7A>T (p.(=)) - TDRD7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.564-7A>T r.(=) p.(=) Unknown - likely benign g.100201520A>T g.97439238A>T TDRD7(NM_014290.2):c.564-7A>T (p.(=)) - TDRD7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.564-5C>T r.spl? p.? Unknown - likely benign g.100201522C>T g.97439240C>T TDRD7(NM_014290.2):c.564-5C>T (p.?) - TDRD7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.564-5C>T r.spl? p.? Unknown - likely benign g.100201522C>T g.97439240C>T TDRD7(NM_014290.2):c.564-5C>T (p.?) - TDRD7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.564-1G>C r.spl? p.? Unknown - VUS g.100201526G>C - TDRD7(NM_014290.3):c.564-1G>C - TDRD7_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.579G>A r.(?) p.(Ala193=) Unknown - likely benign g.100201542G>A g.97439260G>A TDRD7(NM_014290.2):c.579G>A (p.A193=) - TDRD7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.588A>G r.(?) p.(Gln196=) Unknown - likely benign g.100201551A>G g.97439269A>G - - TDRD7_000032 - PubMed: Li 2019 - rs7853578 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam3PatIV1 PubMed: Li 2019 4-generation family, 5 affected (5F) F - China - - - - - 5 Johan den Dunnen
?/. - c.605A>G r.(?) p.(His202Arg) Unknown - VUS g.100201568A>G g.97439286A>G TDRD7(NM_014290.2):c.605A>G (p.H202R) - TDRD7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.689dup r.(?) p.(Tyr230*) Both (homozygous) - pathogenic (recessive) g.100203991dup g.97441709dup 688_689insA - TDRD7_000016 - PubMed: Tan 2019 - - Germline yes - - - - DNA SEQ - - ? Fam2 PubMed: Tan 2019 5-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes China Han - - - - 2 Johan den Dunnen
+?/. - c.689dup r.(?) p.(Tyr230*) Unknown - likely pathogenic g.100203991dup g.97441709dup TDRD7(NM_014290.2):c.688_689insA(p.Y230Terfs*1); CRYBA2(NM_057094.1):c.457T>C(p.Y153H) - TDRD7_000016 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 160 - - - DNA SEQ-NG-I blood - ? WHP60 PubMed: Sun 2018 - F - China - - - - - 1 LOVD
?/. - c.1085C>T r.(?) p.(Pro362Leu) Maternal (confirmed) - VUS g.100222689C>T g.97460407C>T - - TDRD7_000033 no variant 2nd chromosome PubMed: Fernandez-Alcalde 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam30 PubMed: Fernandez-Alcalde 2021 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1129del r.(?) p.(Ala377Profs*2) Both (homozygous) - pathogenic (recessive) g.100222733del g.97460451del - 1129delG TDRD7_000014 - PubMed: Chen 2017 - - Germline yes - - - - DNA SEQ - - CTRCT Fam60152 PubMed: Chen 2017 2-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 5 Johan den Dunnen
-?/. - c.1254G>A r.(?) p.(Gly418=) Unknown - likely benign g.100222858G>A - TDRD7(NM_014290.2):c.1254G>A (p.G418=) - TDRD7_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1591C>T r.(?) p.(Arg531Trp) Both (homozygous) - pathogenic (recessive) g.100227272C>T g.97464990C>T - - TDRD7_000034 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam12720 PubMed: Jackson 2020 - - - Bangladesh Asia - - - - 1 Johan den Dunnen
+?/. - c.1728dup r.(?) p.(Cys577MetfsTer2) Both (homozygous) - likely pathogenic (recessive) g.100232938dup g.97470656dup - - TDRD7_000035 - PubMed: Liu 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam17Pat49 PubMed: Liu 2023 2-generation family, affected brother/sister, unaffected parents M - China - - - - - 2 Johan den Dunnen
-/. - c.1800T>C r.(?) p.(Cys600=) Unknown - benign g.100234633T>C g.97472351T>C TDRD7(NM_014290.2):c.1800T>C (p.C600=) - TDRD7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1852_1854del r.(?) p.(Val618del) Both (homozygous) - pathogenic (recessive) g.100234685_100234687del g.97472403_97472405del - - TDRD7_000012 - PubMed: Lachke 2011 - - Germline yes - - - - DNA SEQ - - CTRCT FamF3R PubMed: Lachke 2011 2-generation family, 4 affected 2F, 2M), unaffected heterozygous carrier parents/relatives F;M yes - - - - - - 4 Johan den Dunnen
?/. - c.1892A>G r.(?) p.(Asn631Ser) Unknown - VUS g.100234725A>G g.97472443A>G TDRD7(NM_014290.2):c.1892A>G (p.N631S) - TDRD7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1944+9G>A r.(=) p.(=) Unknown - likely benign g.100234786G>A - TDRD7(NM_014290.2):c.1944+9G>A, TDRD7(NM_014290.3):c.1944+9G>A - TDRD7_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1944+9G>A r.(=) p.(=) Unknown - likely benign g.100234786G>A - TDRD7(NM_014290.2):c.1944+9G>A, TDRD7(NM_014290.3):c.1944+9G>A - TDRD7_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2079+7C>T r.(=) p.(=) Unknown - likely benign g.100235915C>T - TDRD7(NM_014290.2):c.2079+7C>T - TDRD7_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2164G>A r.(?) p.(Glu722Lys) Unknown - VUS g.100237749G>A - TDRD7(NM_014290.2):c.2164G>A (p.E722K), TDRD7(NM_014290.3):c.2164G>A (p.(Glu722Lys)) - TDRD7_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2164G>A r.(?) p.(Glu722Lys) Unknown - VUS g.100237749G>A - TDRD7(NM_014290.2):c.2164G>A (p.E722K), TDRD7(NM_014290.3):c.2164G>A (p.(Glu722Lys)) - TDRD7_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2189G>A r.(?) p.(Arg730Gln) Unknown - VUS g.100240743G>A g.97478461G>A TDRD7(NM_014290.2):c.2189G>A (p.R730Q) - TDRD7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2390A>G r.(?) p.(Asn797Ser) Unknown - VUS g.100243198A>G - TDRD7(NM_014290.2):c.2390A>G (p.N797S) - TDRD7_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2488C>T r.(?) p.(Arg830Cys) Unknown - VUS g.100245206C>T g.97482924C>T TDRD7(NM_014290.2):c.2488C>T (p.R830C), TDRD7(NM_014290.3):c.2488C>T (p.(Arg830Cys)) - TDRD7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2488C>T r.(?) p.(Arg830Cys) Unknown - likely benign g.100245206C>T - TDRD7(NM_014290.2):c.2488C>T (p.R830C), TDRD7(NM_014290.3):c.2488C>T (p.(Arg830Cys)) - TDRD7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2851G>A r.(?) p.(Val951Met) Unknown - VUS g.100245569G>A - TDRD7(NM_014290.2):c.2851G>A (p.V951M) - TDRD7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2915+7C>T r.(=) p.(=) Unknown - likely benign g.100245640C>T g.97483358C>T TDRD7(NM_014290.2):c.2915+7C>T - TDRD7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3129T>C r.(?) p.(His1043=) Unknown - likely benign g.100257997T>C g.97495715T>C TDRD7(NM_014290.2):c.3129T>C (p.H1043=) - TDRD7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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