Individual #00465864

ID_report FamW10-3099
Reference PubMed: Iqbal 2015
Remarks 2-generation family, 3 affected, unaffected parents
Gender F
Consanguinity -
Country Netherlands
Population -
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
Date created 2025-06-10 16:19:43 +02:00 (CEST)
Date last edited N/A


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     
0000351313 intellectual disability MRT48 Familial, autosomal recessive dsee paper; ..., moderate-severe intellectual disability; neonatal period cried excessively; psychomotor development delayed; progressive tremor; small hand length - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000467515 DNA arraySNP;SEQ;SEQ-NG - WES - 8 Johan den Dunnen



Variants

8 entries on 1 page. Showing entries 1 - 8.
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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     

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VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

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VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

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RNA change     

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P-domain     

Exon_old     

Function/GVS     

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Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
1 Both (homozygous) +?/. - likely pathogenic (recessive) g.110716634G>A g.110174012G>A - - SLC6A17_000015 - PubMed: Iqbal 2015 - - Germline yes - - - - Johan den Dunnen SLC6A17 - - - - - NM_001010898.2:c.484G>A - r.(?) p.(Gly162Arg) - - - - - - - - - - - - - -
2 Both (homozygous) +?/. - VUS g.217559216G>A g.216694493G>A - - IGFBP5_000001 - PubMed: Iqbal 2015 - - Germline no - - - - Johan den Dunnen IGFBP5 - - - - - NM_000599.3:c.283C>T - r.(?) p.(His95Tyr) - - - - - - - - - - - - - -
3 Both (homozygous) +?/. - VUS g.158072676C>G g.158354887C>G - - RSRC1_000001 - PubMed: Iqbal 2015 - - Germline no - - - - Johan den Dunnen RSRC1 - - - - - NM_016625.2:c.562C>G - r.(?) p.(Gln188Glu) - - - - - - - - - - - - - -
9 Parent #1 +?/. - VUS g.134003760A>G g.131128373A>G - - NUP214_000046 - PubMed: Iqbal 2015 - - Germline no - - - - Johan den Dunnen NUP214 - - - - - NM_005085.3:c.283A>G - r.(?) p.(Ile95Val) - - - - - - - - - - - - - -
9 Parent #2 +?/. - VUS g.134074301G>A g.131198914G>A - - NUP214_000047 - PubMed: Iqbal 2015 - - Germline no - - - - Johan den Dunnen NUP214 - - - - - NM_005085.3:c.5420G>A - r.(?) p.(Gly1807Glu) - - - - - - - - - - - - - -
10 Both (homozygous) +?/. - VUS g.114176777C>G g.112417019C>G - - ACSL5_000004 - PubMed: Iqbal 2015 - - Germline no - - - - Johan den Dunnen ACSL5 - - - - - NM_203379.1:c.1215C>G - r.(?) p.(Ile405Met) - - - - - - - - - - - - - -
16 Both (homozygous) +?/. - VUS g.2070541G>T g.2020540G>T - - NPW_000001 - PubMed: Iqbal 2015 - - Germline no - - - - Johan den Dunnen NPW - - - - - NM_001099456.2:c.419G>T - r.(?) p.(Arg140Leu) - - - - - - - - - - - - - -
19 Both (homozygous) +?/. - VUS g.41811623C>A g.41305718C>A - - HNRNPUL1_000002 - PubMed: Iqbal 2015 - - Germline no - - - - Johan den Dunnen HNRNPUL1 - - - - - NM_144732.2:c.2005C>A - r.(?) p.(Gln669Lys) - - - - - - - - - - - - - -
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