Individual #00116657

ID_report 23316014-Fam13PatI1
Reference PubMed: Bornholdt 2013
Remarks -
Gender M
Consanguinity ?
Country Algeria
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases IFAP syndrome with/without BRESHECK syndrome
Owner name Karl-Heinz Grzeschik
Database submission license No license selected
Created by Karl-Heinz Grzeschik


Phenotypes

IFAP syndrome with/without BRESHECK syndrome (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000092178 At 2 years of age: non inflammatory diffuse follicular hyperkeratosis, noncicatricial generalised congenital alopecia, and photophobia; ophthalmologic examination normal; onychodystrophia of third toe of right foot (mycologic examination negative); right cryptorchidism; IFAP syndrome - - Unknown - - - - - Karl-Heinz Grzeschik



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117157 DNA PCR;SEQ - - MBTPS2 1 Karl-Heinz Grzeschik



Variants

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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     
X Unknown +?/. - likely pathogenic g.21900643A>T g.21882525A>T - - MBTPS2_000032 Variant absent from 160 control X-chromosomes; cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness PubMed: Bornholdt 2012 - - Unknown - - - 0 - Karl-Heinz Grzeschik MBTPS2 - - - - 11 NM_015884.3:c.1430A>T - r.(?) p.Asp477Val - - - - - - - - - - - - - - - - - - -
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