Individual #00391497

ID_report 187105
Reference -
Remarks -
Gender M
Consanguinity no
Country Hungary
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases GLASS
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2021-11-16 12:20:37 +01:00 (CET)
Date last edited 2021-11-16 14:53:46 +01:00 (CET)


Phenotypes

Glass syndrome (GLASS, chromosome 2q32-q33 deletion syndrome) (GLASS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000284834 Tall stature, Cleft palate, Misalignment of teeth, Pectus excavatum, Muscular hypotonia, Disproportionate tall stature, Pes cavus, Sandal gap, Expressive language delay, Lumbar hyperlordosis, Crowded maxillary incisors, Severe expressive language delay, Anterior pituitary dysgenesis, Moderate global developmental delay - - Isolated (sporadic) 16y - - - - Andreas Laner



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000392739 DNA SEQ-NG-I - - SATB2 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     

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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     
2 Unknown +?/. ACMG likely pathogenic (dominant) g.200233328C>T - - - SATB2_000112 ACMG: PS2, PM2_SUP, PP3; confirmed de novo in trio; last nucleotide of exon 7, spliceAI predicts donor loss (0,96) - - - De novo ? - - - - Andreas Laner SATB2 - - - - 7 NM_001172509.1:c.700G>A - r.(?) p.(Val234Met) - - - - - - - - - - - - - -
Legend   How to query  


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