Individual #00132806

ID_report 15459971
Reference PubMed: Di Leo 2004
Remarks 2-generation family, affected brother/sister, unaffected heterozygous carrier parents
Gender M
Consanguinity -
Country Italy
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases NPC-1
Owner name Johan den Dunnen


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     
0000105569 see paper; ..., progressive impairment of fine movements, dysarthria; 28y-vertical gaze paralysis, severe dysarthria, dysphagia, ataxia, tremor, intellectual impairment; sister 25y-gait ataxia, 20y-dysarthria, 24y-vertical gaze paralysis - - Familial, autosomal recessive 33y - 10y - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000133640 DNA;RNA RT-PCR;SEQ - - NPC1 6 Johan den Dunnen



Variants

6 entries on 1 page. Showing entries 1 - 6.
Legend  

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 Paternal (confirmed) -/. g.21112206C>T g.23532242C>T - - NPC1_000011 - PubMed: Di Leo 2004 - - Germline - - - 0 - Johan den Dunnen NPC1 - - - - - 25 NM_000271.4:c.3797G>A - - r.3797g>a p.Arg1266Gln - - - - - - - - - - - - - - - - - - -
18 Paternal (confirmed) +/. g.21118615G>A g.23538651G>A - - NPC1_000007 - PubMed: Di Leo 2004 - - Germline - - - 0 - Johan den Dunnen NPC1 - - - - - 20 NM_000271.4:c.2932C>T - - r.2932c>u p.Arg978Cys - - - - - - - - - - - - - - - - - - -
18 Paternal (confirmed) -/. g.21119777G>A g.23539813G>A - - NPC1_000010 - PubMed: Di Leo 2004 - - Germline - - - 0 - Johan den Dunnen NPC1 - - - - - 18 NM_000271.4:c.2793C>T - - r.2793c>u p.Asn931= - - - - - - - - - - - - - - - - - - -
18 Paternal (confirmed) -/. g.21120444T>C g.23540480T>C - - NPC1_000009 - PubMed: Di Leo 2004 - - Germline - - - 0 - Johan den Dunnen NPC1 - - - - - 17 NM_000271.4:c.2572A>G - - r.2572a>g p.Ile858Val - - - - - - - - - - - - - - - - - - -
18 Maternal (confirmed) -/. g.21124945C>T g.23544981C>T - - NPC1_000008 - PubMed: Di Leo 2004 - - Germline - - - 0 - Johan den Dunnen NPC1 - - - - - 12 NM_000271.4:c.1926G>A - - r.1926g>a p.Met642Ile - - - - - - - - - - - - - - - - - - -
18 Maternal (confirmed) +/. g.21137182T>C g.23557218T>C - - NPC1_000012 branchpoint variant PubMed: Di Leo 2004 - - Germline - - - 0 - Johan den Dunnen NPC1 - - - - - 6i NM_000271.4:c.882-28A>G - - r.882_955del p.Lys295Argfs* - - - - - - - - - - - - - - - - - - -
Legend