Individual #00019484

ID_report -
Reference PubMed: Huizing 2001
Remarks -
Gender M
Consanguinity -
Country Germany;Switzerland
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases HPS1
Owner name William (Bill) Oetting
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

Hermansky-Pudlak syndrome (HPS) (HPS1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000017285 see paper; ... - - Familial, autosomal recessive - - - - - William (Bill) Oetting



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019469 DNA;RNA RT-PCR;SEQ - - HPS3 2 William (Bill) Oetting



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

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     

Legacy protein change     

Protein level     
3 Parent #2 +/. - pathogenic g.148868411C>T g.149150624C>T C1329T - HPS3_000006 - PubMed: Huizing 2001, OMIM:var0006 - - Germline - - - 0 - William (Bill) Oetting HPS3 - - - - - 6 NM_032383.3:c.1189C>T - r.(?) p.(Arg397Trp) - - - - - - - - - - - - - - - - - - - -
3 Parent #1 +/. - pathogenic g.148881737G>C g.149163950G>C 2729+1G>C - HPS3_000005 splice mutation PubMed: Huizing 2001, OMIM:var0005 - - Germline - - - 0 - William (Bill) Oetting HPS3 - - - - - 14i NM_032383.3:c.2589+1G>C - r.2482_2589del p.del - - - - - - - - - - - - - - - - - - - -
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