Individual #00000884

Ethnic origin Spanish
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases -
Owner name Pablo Kalfayan-Hospital Italiano
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001049 DNA SEQ-NG CEMIC - 25-oct-2018 Specific pathology MLH1, MSH2, MSH6, MUTYH, PMS2 11 Pablo Kalfayan-CEMIC
0000001392 DNA MLPA Genia (deriv. Hospital Italiano) - 27-may-2019 Specific pathology EPCAM, MLH1, MSH2, MSH6, PMS2 0 Pablo Kalfayan-Hospital Italiano



Variants

11 entries on 1 page. Showing entries 1 - 11.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Reference     

DB-ID     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Reference     
1 Unknown -/- g.45331833C>G - MUTYH_000004 Pablo Kalfayan-Hospital Italiano MUTYH 12 NM_001048171.1:c.972G>C p.(Gln324His) Hetero no r.(?) -
1 Unknown -/-? g.45334484C>T - MUTYH_000008 Pablo Kalfayan-Hospital Italiano MUTYH 2 NM_001048171.1:c.64G>A p.(Val22Met) Hetero no r.(?) -
2 Unknown -/- g.47403411C>G - MSH2_000002 Pablo Kalfayan-Hospital Italiano MSH2 1i NM_000251.2:c.211+9C>G p.(=) Hetero no r.(=) -
2 Unknown -/- g.47466649A>T - MSH2_000017 Pablo Kalfayan-Hospital Italiano MSH2 9i NM_000251.2:c.1511-9A>T p.(=) Hetero no r.(=) -
2 Unknown -/- g.47466820G>A - MSH2_000003 Pablo Kalfayan-Hospital Italiano MSH2 10i NM_000251.2:c.1661+12G>A p.(=) Hetero no r.(=) -
2 Unknown -/- g.47783349G>A - MSH6_000015 Pablo Kalfayan-Hospital Italiano MSH6 1 NM_000179.2:c.116G>A p.(Gly39Glu) Hetero no r.(?) -
2 Unknown -?/-? g.47806763T>G - MSH6_000037 Pablo Kalfayan-Hospital Italiano MSH6 9i NM_000179.2:c.4002-16T>G p.(=) Hetero no r.(=) -
3 Unknown -/- g.37012077A>G - MLH1_000004 Pablo Kalfayan-Hospital Italiano MLH1 8 NM_000249.3:c.655A>G p.(Ile219Val) Hetero no r.(?) -
3 Unknown -/- g.37042249A>G - MLH1_000007 Pablo Kalfayan-Hospital Italiano MLH1 14i NM_000249.3:c.1668-19A>G p.(=) Hetero no r.(=) -
7 Unknown -/- g.5987144T>C - PMS2_000009 Pablo Kalfayan-Hospital Italiano PMS2 11 NM_000535.5:c.1621A>G p.(Lys541Glu) Homo no r.(?) -
7 Unknown -/- g.5997349G>C - PMS2_000004 Pablo Kalfayan-Hospital Italiano PMS2 7 NM_000535.5:c.780C>G p.(=) Homo no r.(=) -
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