Individual #00104025

ID_report Vogelaar-716A
Reference PubMed: Vogelaar 2017, Journal: Vogelaar 2017
Remarks 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases cancer, gastric
Owner name Marjolijn JL Ligtenberg


Phenotypes

cancer, gastric (Neoplasm of stomach) (cancer, gastric)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Diagnosis/Criteria     

Owner     
0000081959 diffuse-type or intestinal-type gastric cancer - - Unknown - - - - - - Marjolijn JL Ligtenberg



Screenings


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Tissue     

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Genes screened     

Variants found     

Owner     
0000104496 DNA SEQ-NG - - - 8 Marjolijn JL Ligtenberg



Variants

8 entries on 1 page. Showing entries 1 - 8.
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Chr     

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AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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Type/DNA     

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CpG     

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mRNA level     

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Protein level     
1 Unknown +?/. g.10425476A>C g.10365418A>C NM_015074.3(KIF1B):c.4384A>C p.(Thr1462Pro) - KIF1B_000010 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg KIF1B - - - - - - NM_015074.3:c.4384A>C - - r.(?) p.(Thr1462Pro) - - - - - - - - - - - - - - - - - - -
2 Unknown +?/. g.212615399C>T g.211750674C>T - - ERBB4_000004 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg ERBB4 - - - - - 5 NM_005235.2:c.587G>A - - r.(?) p.(Arg196His) - - - - - - - - - - - - - - - - - - -
3 Unknown +?/. g.57135371C>T g.57101343C>T NM_017563.3(IL17RD):c.1000G>A p.(Asp334Asn) - IL17RD_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg IL17RD - - - - - - NM_017563.3:c.1000G>A - - r.(?) p.(Asp334Asn) - - - - - - - - - - - - - - - - - - -
7 Unknown +?/. g.121682702A>G g.122042648A>G NM_002851.2(PTPRZ1):c.5842A>G p.(Ser1948Gly) - PTPRZ1_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg PTPRZ1 - - - - - - NM_002851.2:c.5842A>G - - r.(?) p.(Ser1948Gly) - - - - - - - - - - - - - - - - - - -
13 Unknown +?/. g.20763682_20763683del g.20189543_20189544del NM_004004.5(GJB2):c.38_39del p.(Val13Glufs*34) - GJB2_000017 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg GJB2 - - - - - - NM_004004.5:c.38_39del - - r.(?) p.(Val13Glufs*34) - - - - - - - - - - - - - - - - - - -
16 Unknown +?/. g.64981765G>A g.64947862G>A NM_001797.3(CDH11):c.2132C>T p.(Ala711Val) - CDH11_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg CDH11 - - - - - - NM_001797.2:c.2132C>T - - r.(?) p.(Ala711Val) - - - - - - - - - - - - - - - - - - -
18 Unknown +?/. g.12794476C>T g.12794477C>T NM_002828.3(PTPN2):c.1049G>A p.(Arg350Gln) - PTPN2_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg PTPN2 - - - - - - NM_002828.3:c.1049G>A - - r.(?) p.(Arg350Gln) - - - - - - - - - - - - - - - - - - -
22 Unknown +?/. g.36653454G>A g.36257408G>A NM_003661.3(APOL1):c.187+1G>A r.spl p.? - APOL1_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg APOL1 - - - - - - NM_145343.2:c.235+1G>A - - r.spl? p.? - - - - - - - - - - - - - - - - - - -
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