Individual #00276273

ID_report Pat2
Reference PubMed: Giangiobbe 2020, Journal: Giangiobbe 2020
Remarks -
Gender F
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases WDSTS
Owner name Stefano Giuseppe Caraffi
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Stefano Giuseppe Caraffi
Date created 2020-01-29 13:21:46 +01:00 (CET)
Date last edited 2022-05-18 09:19:21 +02:00 (CEST)


Phenotypes

Wiedemann-Steiner syndrome (WDSTS)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Birth_Details     

Diagnosis/Definite     

Age/Examination     

Height-Weight-OFC     

Phenotype details     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000210863 - Isolated (sporadic) - WDSTS - - see paper; ... - - - - Stefano Giuseppe Caraffi



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000277420 DNA SEQ-NG - WES - 1 Stefano Giuseppe Caraffi



Variants

1 entry on 1 page. Showing entry 1.
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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     

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/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
11 Unknown +?/. ACMG likely pathogenic g.118359432G>C g.118488717G>C - - KMT2A_000193 - PubMed: Giangiobbe 2020, Journal: Giangiobbe 2020 - - De novo - - - - - Stefano Giuseppe Caraffi KMT2A - - - - - NM_001197104.1:c.4436G>C - r.(?) p.(Cys1479Ser) - - - - - - - - - - - - - -
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