Individual #00454566

ID_report 304705
Reference -
Remarks -
Gender M
Consanguinity no
Country Germany
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases MRD
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2024-09-16 15:27:47 +02:00 (CEST)
Date last edited 2024-09-18 09:52:08 +02:00 (CEST)


Phenotypes

mental retardation, autosomal dominant (MRD, intellectual disability (IDD)) (MRD)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Owner     
0000343213 - CAGS Short stature, Microcephaly, Selective mutism Unknown 03y - - - Andreas Laner



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000456179 DNA SEQ-NG-I Blood - ANKRD17 1 Andreas Laner



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     
4 Unknown +?/. ACMG likely pathogenic (dominant) g.73985942del g.73120225del - - ANKRD17_000032 ACMG: PVS1, PM2_SUP - - - Germline ? - - - - Andreas Laner ANKRD17 - - - - 21 NM_032217.3:c.3962del - r.(?) p.(Asp1321Valfs*4) - - - - - - - - - - - - - -
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