Individual #00362014

ID_report 177941
Reference -
Remarks -
Gender M
Consanguinity ?
Country Germany
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases IDDFBA
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner


Phenotypes

intellectual developmental disorder, dysmorphic facies, behavioral abnormalities (IDDFBA) (IDDFBA)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000257405 - - (+) Microcephaly,(+) Abnormality of the face,(+) Abnormality of the pinna,(+) Macrotia,(+) Abnormal eyelid morphology,(+) Muscular hypotonia,(+) Global developmental delay Unknown 06y - - - - Andreas Laner



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000363242 DNA SEQ-NG-I - - FBXO11 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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

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     
2 Unknown +?/. ACMG likely pathogenic (dominant) g.48040385_48040391del g.47813246_47813252del - - FBXO11_000046 ACMG: PVS1, PM2_SUP - - - Germline/De novo (untested) ? - - 0 - Andreas Laner FBXO11 - - - - - - NM_001190274.1:c.2211_2217del - r.(?) p.(Ile737Metfs*30) - - - - - - - - - - - - - - - - - - - -
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