Individual #00000295

Ethnic origin Spanish-Venezuelan
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     
0000000344 DNA SEQ-NG CEMIC - 11-jul-2017 - MLH1, MSH2, MSH6, MUTYH, PMS2 24 Pablo Kalfayan-Hospital Italiano
0000000372 DNA MLPA CEMIC - 28-sep-2017 - MLH1, MSH2, MSH6 - Pablo Kalfayan-Hospital Italiano



Variants

24 entries on 1 page. Showing entries 1 - 24.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
1 Unknown -/- g.45330597G>C - MUTYH_000005 - - Pablo Kalfayan-Hospital Italiano MUTYH 14i NM_001048171.1:c.1435-40C>G p.(=) Hetero no r.(=) -
1 Unknown -/- g.45332883T>C - MUTYH_000003 - - Pablo Kalfayan-Hospital Italiano MUTYH 6i NM_001048171.1:c.462+35A>G p.(=) 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.47403500T>C - MSH2_000011 - - Pablo Kalfayan-Hospital Italiano MSH2 1i NM_000251.2:c.211+98T>C p.(=) Hetero no r.(=) -
2 Unknown -/- g.47429662G>A - MSH2_000010 - - Pablo Kalfayan-Hospital Italiano MSH2 6i NM_000251.2:c.1077-80G>A p.(=) Hetero no r.(=) -
2 Unknown -/- g.47429732T>C - MSH2_000019 - - Pablo Kalfayan-Hospital Italiano MSH2 6i NM_000251.2:c.1077-10T>C p.(=) Hetero no r.(=) -
2 Unknown -/- g.47466567G>T - MSH2_000014 - - Pablo Kalfayan-Hospital Italiano MSH2 9i NM_000251.2:c.1511-91G>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.47476361T>C - MSH2_000005 - - Pablo Kalfayan-Hospital Italiano MSH2 12i NM_000251.2:c.2006-6T>C 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.47795842G>T - MSH6_000016 - - Pablo Kalfayan-Hospital Italiano MSH6 2i NM_000179.2:c.458-52G>T p.(=) Hetero no r.(=) -
2 Unknown -/- g.47803319G>C - MSH6_000001 - - Pablo Kalfayan-Hospital Italiano MSH6 4i NM_000179.2:c.3173-101G>C p.(=) Hetero no r.(=) -
2 Unknown -/. g.47805474G>A - MSH6_000013 - - Pablo Kalfayan-Hospital Italiano MSH6 6i NM_000179.2:c.3557-144G>A p.(=) Hetero no r.(=) -
2 Unknown -/- g.47805742_47805745delATCT - MSH6_000012 - - Pablo Kalfayan-Hospital Italiano MSH6 7i NM_000179.2:c.3646+35_3646+38delATCT p.(=) Hetero no r.(=) -
2 Unknown -/- g.47805798T>C - MSH6_000004 - - Pablo Kalfayan-Hospital Italiano MSH6 7i NM_000179.2:c.3646+91T>C p.(=) Hetero no r.(=) -
2 Unknown -/- g.47806412C>G - MSH6_000005 - - Pablo Kalfayan-Hospital Italiano MSH6 8i NM_000179.2:c.3802-40C>G p.(=) Hetero no r.(=) -
3 Unknown -/- g.36993455G>A - MLH1_000013 - - Pablo Kalfayan-Hospital Italiano MLH1 5'UTR NM_000249.3:c.-93G>A p.(=) Hetero no r.(=) -
3 Unknown -/- g.37007142A>G - MLH1_000014 - - Pablo Kalfayan-Hospital Italiano MLH1 5i NM_000249.3:c.453+79A>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.37020549T>C - MLH1_000015 - - Pablo Kalfayan-Hospital Italiano MLH1 11i NM_000249.3:c.1038+86T>C p.(=) Hetero no r.(=) -
3 Unknown -/- g.37025559A>G - MLH1_000005 - - Pablo Kalfayan-Hospital Italiano MLH1 11i NM_000249.3:c.1039-78A>G p.(=) 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.(=) -
3 Unknown -/- g.37048783C>T - MLH1_000008 - - Pablo Kalfayan-Hospital Italiano MLH1 17i NM_000249.3:c.1990-121C>T p.(=) Hetero no r.(=) -
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