Individual #00002033

ID_report -
Reference -
Remarks -
Gender M
Consanguinity ?
Country Italy
Population white
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases SLOS
Parent(s) Father, Mother
Owner name Division of Human Genetics, Innsbruck
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

Smith-Lemli-Opitz syndrome (SLOS) (SLOS)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Diagnosis/Definite     

Age/Examination     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Biochem     

Protein     

Age/Diagnosis     

Severity_score     

Owner     
0000001012 - Familial - - - - ascertainment clinical presentation; no 2-3 toe syndactyly cholesterol: 531 ug/ml, 7DHC: 485 ug/ml, 8DHC: 406 ug/ml - - 25 Division of Human Genetics, Innsbruck



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001711 DNA SEQ - - DHCR7 2 Division of Human Genetics, Innsbruck
0000002220 DNA SEQ - - APOE 1 Division of Human Genetics, Innsbruck



Variants

3 entries on 1 page. Showing entries 1 - 3.
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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     

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     
11 Maternal (confirmed) +/+ - pathogenic g.71152447C>T g.71441401C>T - - DHCR7_000009 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - rs80338854 Unknown - CZ1/56,E EU1/67 - 0 - Division of Human Genetics, Innsbruck DHCR7 - - - - - 6 NM_001360.2:c.452G>A F r.(?) p.(Trp151*) - - - - - - - - - - - - - - - - - - -
11 Paternal (confirmed) +/+ - pathogenic g.71155082G>A g.71444036G>A - - DHCR7_000012 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - rs80338853 Unknown - SP1/528,GR1/400 - 0 - Division of Human Genetics, Innsbruck DHCR7 - - - - - 4 NM_001360.2:c.278C>T J r.(?) p.(Thr93Met) - - - - - - - - - - - - - - - - - - -
19 Parent #1 ?/? - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Germline no - - 0 - Division of Human Genetics, Innsbruck APOE - - - - - 4 NM_000041.2:c.388T>C E4 r.(?) p.(Cys130Arg) - - - - - - - - - - - - - - - - - - -
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