Full data view for gene TCF7L1

Information The variants shown are described using the NM_031283.2 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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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.34G>A r.(?) p.(Gly12Ser) Unknown - likely benign g.85360841G>A - TCF7L1(NM_031283.3):c.34G>A (p.G12S) - TCF7L1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.40_42del r.(?) p.(Gly14del) Unknown - likely pathogenic g.85360847_85360849del g.85133724_85133726del NM_031283.2(TCF7L1):c.40_42del p.(Gly14del) - TCF7L1_000002 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-049A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
./. - c.40_42del r.(?) p.(Gly14del) Unknown - likely pathogenic g.85360847_85360849del g.85133724_85133726del NM_031283.2(TCF7L1):c.40_42del p.(Gly14del) - TCF7L1_000002 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-059A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
./. - c.40_42del r.(?) p.(Gly14del) Unknown - likely pathogenic g.85360847_85360849del g.85133724_85133726del NM_031283.2(TCF7L1):c.40_42del p.(Gly14del) - TCF7L1_000002 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-059B PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
./. - c.40_42del r.(?) p.(Gly14del) Unknown - likely pathogenic g.85360847_85360849del g.85133724_85133726del NM_031283.2(TCF7L1):c.40_42del p.(Gly14del) - TCF7L1_000002 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-112A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
./. - c.40_42del r.(?) p.(Gly14del) Unknown - likely pathogenic g.85360847_85360849del g.85133724_85133726del NM_031283.2(TCF7L1):c.40_42del p.(Gly14del) - TCF7L1_000002 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-164A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
./. - c.40_42del r.(?) p.(Gly14del) Unknown - likely pathogenic g.85360847_85360849del g.85133724_85133726del NM_031283.2(TCF7L1):c.40_42del p.(Gly14del) - TCF7L1_000002 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-703A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
-?/. - c.40_42del r.(?) p.(Gly14del) Unknown - likely benign g.85360847_85360849del g.85133724_85133726del TCF7L1(NM_031283.3):c.40_42delGGC (p.G14del) - TCF7L1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.40_42del r.(?) p.(Gly14del) Unknown - likely benign g.85360847_85360849del - TCF7L1(NM_031283.3):c.40_42delGGC (p.G14del) - TCF7L1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.441+20G>T r.(=) p.(=) Unknown - likely benign g.85361593G>T - TCF7L1(NM_031283.3):c.441+20G>T - TCF7L1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.441+45766T>G r.(=) p.(=) Unknown - VUS g.85407339T>G g.85180216T>G - - TCF7L1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-/. - c.478T>A r.(?) p.(Ser160Thr) Unknown - benign g.85510654T>A - TCF7L1(NM_031283.3):c.478T>A (p.S160T) - TCF7L1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.486C>T r.(?) p.(Ala162=) Unknown - benign g.85510662C>T - TCF7L1(NM_031283.3):c.486C>T (p.A162=) - TCF7L1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.757C>T r.(?) p.(Pro253Ser) Unknown - benign g.85531116C>T - TCF7L1(NM_031283.3):c.757C>T (p.P253S) - TCF7L1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.757C>T r.(?) p.(Pro253Ser) Unknown - VUS g.85531116C>T - TCF7L1(NM_031283.3):c.757C>T (p.P253S) - TCF7L1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.762-11C>T r.(=) p.(=) Unknown - benign g.85531367C>T - TCF7L1(NM_031283.3):c.762-11C>T - TCF7L1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1035C>T r.(?) p.(=) Unknown - benign g.85533374C>T - TCF7L1(NM_031283.3):c.1035C>T (p.H345=) - TCF7L1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1150-4C>G r.spl? p.? Unknown - benign g.85533571C>G - TCF7L1(NM_031283.3):c.1150-4C>G - TCF7L1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1245C>T r.(?) p.(Ala415=) Unknown - benign g.85533670C>T - TCF7L1(NM_031283.3):c.1245C>T (p.A415=) - TCF7L1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1334-19_1334-16del r.(=) p.(=) Unknown - benign g.85536133_85536136del - TCF7L1(NM_031283.3):c.1334-19_1334-16delTCTT - TCF7L1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1458G>A r.(?) p.(=) Unknown - likely benign g.85536276G>A - TCF7L1(NM_031283.3):c.1458G>A (p.L486=) - TCF7L1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1597G>A r.(?) p.(Gly533Arg) Unknown - benign g.85536415G>A - TCF7L1(NM_031283.3):c.1597G>A (p.G533R) - TCF7L1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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