Individual #00103993

ID_report Vogelaar-036A
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 at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases cancer, gastric
Owner name Marjolijn JL Ligtenberg
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


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     

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Phenotype/Onset     

Protein     

Diagnosis/Criteria     

Owner     
0000081927 diffuse-type or intestinal-type gastric cancer - - Unknown - - - - - - Marjolijn JL Ligtenberg



Screenings


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Tissue     

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Variants found     

Owner     
0000104464 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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Effect     

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Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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CpG     

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Legacy protein change     

Protein level     
2 Unknown +?/. - likely pathogenic g.190742047A>G g.189877321A>G NM_000534.4(PMS1):c.2684A>G p.(Glu895Gly) - PMS1_000033 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg PMS1 - - - - - - NM_000534.4:c.2684A>G - r.(?) p.(Glu895Gly) - - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) +?/. - likely pathogenic g.38182252C>T g.38140761C>T NM_001172567.1(MYD88):c.712C>T p.(Arg238Cys) - MYD88_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg MYD88 - - - - - - NM_002468.4:c.688C>T - r.(?) p.(Arg230Cys) - - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) ?/. - VUS g.48602231G>A g.48564798G>A - - COL7A1_000360 - PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg COL7A1 - - - - - 117 NM_000094.3:c.8803C>T - r.(?) p.(Gln2935*) - - - - - - - - - - - - - - - - - - - -
4 Unknown +?/. - likely pathogenic g.20490504G>A g.20488881G>A NM_004787.3(SLIT2):c.674G>A p.(Arg225His) - SLIT2_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg SLIT2 - - - - - - NM_004787.1:c.674G>A - r.(?) p.(Arg225His) - - - - - - - - - - - - - - - - - - - -
5 Unknown +?/. - likely pathogenic g.79351679G>A g.80055856G>A NM_003248.5(THBS4):c.364G>A p.(Gly122Arg) - THBS4_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg THBS4 - - - - - - NM_003248.4:c.364G>A - r.(?) p.(Gly122Arg) - - - - - - - - - - - - - - - - - - - -
6 Unknown +?/. - likely pathogenic g.167728728C>T g.167315240C>T NM_018974.3(UNC93A):c.1162C>T p.(Arg388Cys) - UNC93A_000002 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg UNC93A - - - - - - NM_018974.3:c.1162C>T - r.(?) p.(Arg388Cys) - - - - - - - - - - - - - - - - - - - -
17 Unknown +?/. - likely pathogenic g.74527220A>G g.76531138A>G NM_134268.3(CYGB):c.380T>C p.(Leu127Pro) - CYGB_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg CYGB - - - - - - NM_134268.4:c.380T>C - r.(?) p.(Leu127Pro) - - - - - - - - - - - - - - - - - - - -
18 Unknown +?/. - likely pathogenic g.7037584C>G g.7037585C>G NM_005559.3(LAMA1):c.1730G>C p.(Gly577Ala) - LAMA1_000026 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg LAMA1 - - - - - - NM_005559.3:c.1730G>C - r.(?) p.(Gly577Ala) - - - - - - - - - - - - - - - - - - - -
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