Individual #00148570

ID_report -
Reference -
Remarks -
Gender F
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases NPC-1
Owner name Gemeinschaftspraxis für Humangenetik Dresden


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000149426 DNA PCR - - NPC1 1 Gemeinschaftspraxis für Humangenetik Dresden



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 Unknown +/. g.21116809_21116816delinsA - - - NPC1_000013 - - - - Germline/De novo (untested) - - - 0 - Gemeinschaftspraxis für Humangenetik Dresden NPC1 - - - - - 21 NM_000271.4:c.3066_3073delinsT - - r.(?) p.(Val1023Serfs*15) - - - - - - - - - - - - - - - - - - -
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