Individual #00307256

ID_report Patient 60
Reference PubMed: Mendonca 2021
Remarks -
Gender M
Consanguinity -
Country Brazil
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases RB1
Owner name Vanessa Mendonça
Database submission license No license selected
Created by Vanessa Mendonça


Phenotypes

retinoblastoma (RB-1) (RB1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000233060 Unilateral - - Unknown - 00y10m - HP:0000555 - Vanessa Mendonça



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308398 DNA SEQ-NG-I blood/FFPE tumor 160 genes - 4 Vanessa Mendonça



Variants

4 entries on 1 page. Showing entries 1 - 4.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
5 Unknown +?/. ACMG pathogenic g.112170683G>A - - - APC_000222 - PubMed: Mendonca 2021 - - Somatic - 0.095 - - - Vanessa Mendonça APC - - - - - - NM_000038.5:c.1779G>A - r.(?) p.(Trp593*) - - - - - - - - - nonsense substitution - - - - - - - -
12 Unknown +?/. ACMG pathogenic g.25362809_25362810delTT - - - KRAS_000041 - PubMed: Mendonca 2021 - - Somatic - 0.662 - - - Vanessa Mendonça KRAS - - - - - - NM_004985.3:c.486_487delAA - r.(?) p.(Glu162Aspfs*5) - - - - - - - - - - - - - - - - - - -
13 Unknown +?/. ACMG pathogenic g.48954379T>G - - - RB1_000437 - PubMed: Mendonca 2021 - - Somatic - 0.335 - - - Vanessa Mendonça RB1 - - - - - - NM_000321.2:c.1498+2T>G - r.spl? p.? - - - - - - - - - - - - - - - - - - -
22 Unknown +?/. ACMG pathogenic g.41554505G>A - - - EP300_000142 - PubMed: Mendonca 2021 - - Somatic - 0.035 - - - Vanessa Mendonça EP300 - - - - - - NM_001429.3:c.3590+1G>A - r.spl? p.? - - - - - - - - - - - - - - - - - - -
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