Individual #00303969

ID_report -
Reference -
Remarks -
Gender M
Consanguinity no
Country Italy
Population white
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases SOTOS1
Owner name Domenico Coviello
Database submission license No license selected
Created by Domenico Coviello


Phenotypes

Sotos syndrome, type 1 (SOTOS-1) (SOTOS1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000231028 Poor motor coordination (HP:0002275),Postnatal macrocephaly (HP:0005490),Infantile muscular hypotonia( HP:0008947) - - Isolated (sporadic) - - - - - Domenico Coviello



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000305097 DNA DHPLC blood - NSD1 1 Domenico Coviello



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/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     
5 Unknown +?/. - likely pathogenic g.176637062_176637063delinsC - - - NSD1_000351 - - - - De novo - - - 0 - Domenico Coviello NSD1 - - - - 5 NM_022455.4:c.1662_1663delinsC - r.(?) p.(Ala555Glnfs*44) - - - - - - - - - - - - - - - - - - -
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