Individual #00387852

ID_report M8900199-1
Reference PubMed: Hu 2019
Remarks family, 3 affected individuals, third cousin parents
Gender -
Consanguinity yes
Country Iran
Population Persia
Age at death -
VIP -
Data_av -
Treatment -
Panel size 3
Diseases ID
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

intellectual disability (ID) (ID)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Phenotype details     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000281420 intellectual disability - Familial, autosomal recessive syndromic intellectual disability, microcephaly - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000389083 DNA SEQ;SEQ-NG - - DHCR24 1 Johan den Dunnen



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/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     
1 Both (homozygous) +?/. ACMG likely pathogenic (recessive) g.55318040C>T g.54852367C>T - - DHCR24_000013 - PubMed: Hu 2019 - - Germline - - - - - Johan den Dunnen DHCR24 - - - - - NM_014762.3:c.1417G>A - r.(?) p.(Asp473Asn) - - - - - - - - - - - - - - - - - - -
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