Individual #00449692

ID_report -
Reference -
Remarks -
Gender F
Consanguinity no
Country Japan
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases SRS
Owner name Kaori Yamoto
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Kaori Yamoto
Date created 2024-05-01 08:59:57 +02:00 (CEST)
Date last edited 2024-05-03 12:28:30 +02:00 (CEST)


Phenotypes

Silver-Russell syndrome (SRS, Russell-Silver syndrome (RSS)) (SRS;RSS)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Growth/Prenatal     

Growth/Postnatal     

Head/Size     

Asymmetry     

Abdominal/Symptoms     

Phenotype details     

Inheritance     

Birth_Details     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000338863 Silver-Russell syndrome Silver-Russell syndrome delayed growth delayed macrocephaly relative no asymmetric growth feeding problems Triangular face, Micrognathia, Clinodactyly; prominent forehead (HP:0011220) Isolated (sporadic) - - - - - - Kaori Yamoto



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000451283 DNA SEQ-NG - - - 1 Kaori Yamoto



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     
12 Unknown +/. ACMG pathogenic g.66221807_66221810delinsCT g.65828027_65828030delinsCT - - HMGA2_000032 - - - - De novo - - - - - Kaori Yamoto HMGA2 - - - - - NM_003483.4:c.138_141delinsCT - r.(?) p.(Lys46Asnfs*16) - - - - - - - - - - - - - -
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