Individual #00001084

Ethnic origin Not available
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases -
Owner name Marina Antelo-Hospital Udaondo
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     
0000001295 DNA SEQ-NG High Medic Group - 11-jan-2017 Specific pathology MLH1, PMS2 4 Marina Antelo-Hospital Udaondo



Variants

4 entries on 1 page. Showing entries 1 - 4.
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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     
3 Unknown -/- g.36993455G>A - MLH1_000013 - - Marina Antelo-Hospital Udaondo MLH1 5'UTR NM_000249.3:c.-93G>A p.(=) Hetero no r.(=) -
3 Unknown -/- g.37012077A>G - MLH1_000004 - - Marina Antelo-Hospital Udaondo MLH1 8 NM_000249.3:c.655A>G p.(Ile219Val) Hetero no r.(?) -
7 Unknown ?/-? g.5987328G>C - PMS2_000039 - - Marina Antelo-Hospital Udaondo PMS2 11 NM_000535.5:c.1437C>G p.(His479Gln) Hetero no r.(?) -
7 Unknown ?/- g.5988009C>T - PMS2_000040 - - Marina Antelo-Hospital Udaondo PMS2 10i NM_000535.5:c.1145-389G>A p.(=) Hetero no r.(=) RECLASSIFIED JULY 2022
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