Individual #00002210

ID_report -
Reference PubMed: Krakowiak 2000
Remarks Patient 8 from Krakowiak et al. 2000
Gender F
Consanguinity ?
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases SLOS
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     
0000001189 - Familial - - - - ascertainment clinical presentation; micrognathia, behavioral problems with an autistic component, and is self-abusive cholesterol: 940 ug/ml, 7DHC: 81 ug/ml - 01y06m 17 Division of Human Genetics, Innsbruck



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001888 DNA SEQ - - DHCR7 2 Division of Human Genetics, Innsbruck



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     

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 Parent #2 +/+ - pathogenic g.71150032G>A g.71438986G>A - - DHCR7_000036 - PubMed: Neklason et al. 1999 - rs80338856 Unknown - - - 0 - Division of Human Genetics, Innsbruck DHCR7 - - - - 7 NM_001360.2:c.724C>T - r.(?) p.(Arg242Cys) - - - - - - - - - - - - - - - - - - -
11 Parent #1 +?/+? - likely pathogenic g.71152370A>G g.71441324A>G - - DHCR7_000207 - PubMed: Krakowiak et al. 2000 - - Unknown - - - 0 - Division of Human Genetics, Innsbruck DHCR7 - - - - 6 NM_001360.2:c.529T>C - r.(?) p.(Trp177Arg) - - - - - - - - - - - - - - - - - - -
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