Full data view for gene CDH1


Information The variants shown are described using the NM_004360.3 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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     
+/. 16 c.2494G>A r.(?) p.(Val832Met) Unknown - pathogenic g.68867247G>A g.68833344G>A - - CDH1_000054 - PubMed: Yabuta 2002 - rs35572355 Germline - - - - - DNA SEQ - - HDGC - PubMed: Yabuta 2002 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. 16 c.2494G>A r.(?) p.(Val832Met) Parent #1 - VUS g.68867247G>A g.68833344G>A - - CDH1_000054 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
?/. - c.2494G>A r.(?) p.(Val832Met) Unknown - VUS g.68867247G>A g.68833344G>A CDH1(NM_004360.3):c.2494G>A (p.V832M), CDH1(NM_004360.5):c.2494G>A (p.V832M) - CDH1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 15 c.2494G>A r.(?) p.(Val832Met) Parent #1 - benign g.68867247G>A g.68833344G>A - - CDH1_000054 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs35572355 Germline - 72/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 72 Yukihide Momozawa
-/. 15 c.2494G>A r.(?) p.(Val832Met) Parent #1 - benign g.68867247G>A g.68833344G>A - - CDH1_000054 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs35572355 Germline - 126/11214 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 126 Yukihide Momozawa
-/. - c.2494G>A r.(?) p.(Val832Met) Both (homozygous) - benign g.68867247G>A g.68833344G>A - - CDH1_000054 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs35572355 Germline - 1/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 1 Yukihide Momozawa
-/. - c.2494G>A r.(?) p.(Val832Met) Both (homozygous) - benign g.68867247G>A g.68833344G>A - - CDH1_000054 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs35572355 Germline - 2/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 2 Yukihide Momozawa
-/. - c.2494G>A r.(?) p.(Val832Met) Parent #1 - benign g.68867247G>A g.68833344G>A - - CDH1_000054 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs35572355 Germline - 121/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 121 Yukihide Momozawa
-/. - c.2494G>A r.(?) p.(Val832Met) Parent #1 - benign g.68867247G>A g.68833344G>A - - CDH1_000054 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35572355 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.2494G>A r.(?) p.(Val832Met) Parent #1 - NA g.68867247G>A - chr16_68867247_G_A - CDH1_000054 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 54/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 54 BRIDGES consortium
?/. - c.2494G>A r.(?) p.(Val832Met) Parent #1 - NA g.68867247G>A - chr16_68867247_G_A - CDH1_000054 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 50/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 50 BRIDGES consortium
-/. - c.2494G>A r.(?) p.(Val832Met) Unknown - benign g.68867247G>A - CDH1(NM_004360.3):c.2494G>A (p.V832M), CDH1(NM_004360.5):c.2494G>A (p.V832M) - CDH1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2494G>A r.(?) p.(Val832Met) Unknown - benign g.68867247G>A - CDH1(NM_004360.3):c.2494G>A (p.V832M), CDH1(NM_004360.5):c.2494G>A (p.V832M) - CDH1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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This database is one of the InSiGHT gene variant databases


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