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     
?/. 14 c.2253C>T r.(=) p.(=) Unknown - VUS g.68862165C>T g.68828262C>T - - CDH1_000108 - PubMed: Brito 2015, Journal: Brito 2015 - - Germline - - - - - DNA SEQ Saliva - CLP - PubMed: Brito 2015, Journal: Brito 2015 - F no Brazil - - - - - 1 Maria Rita Passos-Bueno
?/. 14 c.2253C>T r.(=) p.(=) Unknown - VUS g.68862165C>T g.68828262C>T - - CDH1_000108 - PubMed: Brito 2015, Journal: Brito 2015 - - Germline - 46/1218 chromosomes - - - DNA SEQ Saliva - Healthy/Control - PubMed: Brito 2015, Journal: Brito 2015 609 Brazilian controls - - Brazil - - - - - 46 Maria Rita Passos-Bueno
-/. - c.2253C>T r.(?) p.(Asn751=) Unknown - benign g.68862165C>T g.68828262C>T CDH1(NM_004360.3):c.2253C>T (p.(=)), CDH1(NM_004360.5):c.2253C>T (p.N751=) - CDH1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 14 c.2253C>T r.(?) p.(=) Parent #1 - benign g.68862165C>T g.68828262C>T - - CDH1_000108 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs33964119 Germline - 958/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 958 Yukihide Momozawa
-/. 14 c.2253C>T r.(?) p.(=) Parent #1 - benign g.68862165C>T g.68828262C>T - - CDH1_000108 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs33964119 Germline - 1517/11241 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 1517 Yukihide Momozawa
-/. - c.2253C>T r.(?) p.(Asn751Asn) Both (homozygous) - benign g.68862165C>T g.68828262C>T - - CDH1_000108 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs33964119 Germline - 48/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 48 Yukihide Momozawa
-/. - c.2253C>T r.(?) p.(Asn751Asn) Both (homozygous) - benign g.68862165C>T g.68828262C>T - - CDH1_000108 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs33964119 Germline - 68/11241 controls - - - DNA SEQ - - Healthy/Control -con-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 68 Yukihide Momozawa
-/. - c.2253C>T r.(?) p.(=) Both (homozygous) - benign g.68862165C>T g.68828262C>T - - CDH1_000108 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs33964119 Germline - 2/53 cases - - - DNA SEQ - - cancer, breast -cases-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 53 male breast cancer cases M - Japan - - - - - 2 Yukihide Momozawa
-/. - c.2253C>T r.(?) p.(=) Parent #1 - benign g.68862165C>T g.68828262C>T - - CDH1_000108 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs33964119 Germline - 7/53 cases - - - DNA SEQ - - cancer, breast -cases-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 53 male breast cancer cases M - Japan - - - - - 7 Yukihide Momozawa
-/. - c.2253C>T r.(?) p.(=) Both (homozygous) - benign g.68862165C>T g.68828262C>T - - CDH1_000108 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs33964119 Germline - 74/12489 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 74 Yukihide Momozawa
-/. - c.2253C>T r.(?) p.(=) Parent #1 - benign g.68862165C>T g.68828262C>T - - CDH1_000108 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs33964119 Germline - 1696/12489 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 1696 Yukihide Momozawa
-/. - c.2253C>T r.(?) p.(Asn751=) Unknown - benign g.68862165C>T g.68828262C>T CDH1(NM_004360.3):c.2253C>T (p.(=)), CDH1(NM_004360.5):c.2253C>T (p.N751=) - CDH1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2253C>T r.(?) p.(Asn751=) Unknown - benign g.68862165C>T - CDH1(NM_004360.3):c.2253C>T (p.(=)), CDH1(NM_004360.5):c.2253C>T (p.N751=) - CDH1_000108 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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