Individual #00016449

ID_report -
Reference PubMed: Lam 1999
Remarks -
Gender -
Consanguinity ?
Country -
Population ?
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases BWS
Owner name Eamonn Maher
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2014-04-22 17:11:31 +02:00 (CEST)
Date last edited 2023-02-23 09:56:23 +01:00 (CET)


Phenotypes

Beckwith-Wiedemann syndrome (BWS) (BWS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000015085 ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; no tumor - - Isolated (sporadic) - - - - - Eamonn Maher



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016391 DNA SEQ ? - CDKN1C 1 Eamonn Maher



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 Parent #1 +/? - pathogenic g.2906511G>A g.2885281G>A - - CDKN1C_000018 - PubMed: Lam 1999 - - De novo ? - - - - Eamonn Maher CDKN1C - - - - 1 NM_000076.2:c.209C>T - r.(?) p.(P70L) I - - - - - - - - - - - - -
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