Individual #00165102

ID_report Case 1
Reference Kawazoe T, submitted
Remarks -
Gender M
Consanguinity no
Country Japan
Population -
Age/Death 25y (25 years)
VIP 0
Data_av -
Treatment Miglustat
Panel size 1
Diseases NPC-1
Owner name Tomoya Kawazoe


Phenotypes

Niemann-Pick disease type C1 (NPC-1) (NPC-1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000129997 Prolonged neonatal jaundice (HP:0006579) Splenomegaly (HP:0001744) Intellectual disability, progressive (HP:0006887) Clumsiness (HP:0002312) Spastic ataxia (HP:0002497) Slowed slurred speech (HP:0007164) Schizophrenia (HP:0100753) Dysphagia (HP:0002015) Frequent falls (HP:0002359) Vertical supranuclear gaze palsy (HP:0000511) Choreoathetosis (HP:0001266) Limb dystonia (HP:0002451) Limb myoclonus (HP:0045084) Intellectual disability Niemann-Pick disease type C1 Isolated (sporadic) 25y 25y 11y Mental retardation - Tomoya Kawazoe



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165991 DNA SEQ Blood - NPC1 1 Tomoya Kawazoe



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

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     

ClassClinical     

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     

Protein level     
18 Maternal (confirmed) +/. g.21113351A>G - - - NPC1_000104 - - - - Germline - - - 0 - Tomoya Kawazoe NPC1 - - - - - - NM_000271.4:c.3722T>C - - r.(?) p.(Leu1241Ser) - - - - - - - - - - - - - - - - - - -
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