Individual #00414555

ID_report Pat2
Reference PubMed: Uctepe 2023
Remarks 2-generation family, 1 affected, unaffected heterozygous carrier parents
Gender F
Consanguinity yes
Country Turkey
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases MRT
Owner name Eyyup Uctepe
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by N/A
Date created 2022-07-29 11:10:48 +02:00 (CEST)
Date last edited 2025-01-23 12:34:41 +01:00 (CET)


Phenotypes

mental retardation, autosomal recessive (MRT, intellectual disability (IDT)) (MRT)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000348060 see paper; ..., intellectual disability, autistic features intellectual disability MRT13 Familial, autosomal recessive 11y - - - - Eyyup Uctepe



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000415836 DNA SEQ-NG - WES - 1 Eyyup Uctepe



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     
8 Both (homozygous) +?/. ACMG likely pathogenic (recessive) g.141449258T>G g.140439159T>G NM_031466.8:c.623A>C - TRAPPC9_000073 - PubMed: Uctepe 2023 - - Germline ? - - - - Eyyup Uctepe TRAPPC9 - - - - 3 NM_001160372.1:c.623A>C - r.(?) p.(His208Pro) - - - - - - - - - - - - - -
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