Individual #00073122

ID_report -
Reference ATX498
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     
0000053271 - - - Familial, autosomal recessive - - - - - Claire Guissart



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073280 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 Parent #1 +/. g.21124979A>C g.23545015A>C - - NPC1_000006 - - - - Germline - - - 0 - Claire Guissart NPC1 - - - - - 12 NM_000271.4:c.1892T>G - - r.(?) p.(Met631Arg) - - - - - - - - - - - - - - - - - - -
18 Unknown +/. g.21136377T>C g.23556413T>C - - NPC1_000005 - - - - Germline - - - 0 - Claire Guissart NPC1 - - - - - 8 NM_000271.4:c.1156A>G - - r.(?) p.(Ser386Gly) - - - - - - - - - - - - - - - - - - -
Legend