Individual #00000643

Ethnic origin Unknown
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases --
Owner name Florencia Petracchi-CEMIC
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     
0000000744 DNA SEQ CEMIC - 23-oct-2017 Specific pathology panel RET 5 Florencia Petracchi-CEMIC



Variants

5 entries on 1 page. Showing entries 1 - 5.
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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     
10 Unknown -/- g.43100520G>A - RET_000007 - - Florencia Petracchi-CEMIC RET 2 NM_020975.5:c.135A>G p.(Ala45=) Homo no r.(=) -
10 Unknown -/- g.43111239A>G - RET_000002 - - Florencia Petracchi-CEMIC RET 7 NM_020975.5:c.1296A>G p.(Ala432=) Homo no r.(=) -
10 Unknown -/- g.43116778C>T - RET_000004 - - Florencia Petracchi-CEMIC RET 12i NM_020975.5:c.2284+47C>T p.? Hetero no r.? -
10 Unknown -/- g.43120185C>G - RET_000008 - - Florencia Petracchi-CEMIC RET 15 NM_020975.5:c.2712C>G p.(Ser904=) Hetero no r.(=) RECLASSIFIED JUNE 2019
10 Unknown -/- g.43124887C>T - RET_000009 - - Florencia Petracchi-CEMIC RET 18 NM_020975.5:c.2944C>T p.(Arg982Cys) Hetero no r.(?) RECLASSIFIED JULY 2022
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