Individual #00454652

ID_report F1.1
Reference Landry-Voyer et al. 2024 - submitted
Remarks 2-generation family, 3 affected, unaffected heterozygous carrier parents
Gender F
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 3
Diseases hydrops fetalis
Owner name Tess Holling
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Tess Holling
Date created 2024-09-23 13:51:09 +02:00 (CEST)
Date last edited 2024-09-25 09:34:08 +02:00 (CEST)


Phenotypes

hydrops fetalis (hydrops fetalis)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000343290 hydrops fetalis, NIHF Familial, autosomal recessive - hydrops fetalis, NIHF - - - fetal demise at 19 weeks of gestation with findings of thick nuchal translucency - Tess Holling



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000456265 DNA SEQ-NG-I - WES - 1 Tess Holling



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     
6 Both (homozygous) +/. other likely pathogenic (recessive) g.170893588G>A g.170584500G>A - - PDCD2_000001 - Landry-Voyer et al. 2024 submitted - - Germline yes - - - - Tess Holling PDCD2 - - - - 1 NM_002598.3:c.82C>T - r.(82c>u) p.(Pro28Ser) - - - - - - - - - - - - - -
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