Individual #00073121

ID_report -
Reference ATX42
Remarks -
Gender F
Consanguinity no
Country France
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases NPC-1
Owner name Claire Guissart


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     
0000053270 - - - Familial, autosomal recessive - - - - - Claire Guissart



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073279 DNA SEQ;SEQ-NG-I - - NPC1 2 Claire Guissart



Variants

2 entries on 1 page. Showing entries 1 - 2.
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 Maternal (confirmed) +/. g.21148897_21148898del g.23568933_23568934del 352_353delAG - NPC1_000003 - - - - Germline - - - 0 - Claire Guissart NPC1 - - - - - 4 NM_000271.4:c.352_353del - - r.(?) p.(Gln119Valfs*8) - - - - - - - - - - - - - - - - - - -
18 Paternal (inferred) +/. g.21166247T>C g.23586283T>C - - NPC1_000004 - - - - Germline yes - - 0 - Claire Guissart NPC1 - - - - - 1i NM_000271.4:c.57+4A>G - - r.spl? p.? - - - - - - - - - - - - - - - - - - -
Legend