Individual #00090109

ID_report -
Reference PubMed: Clericuzio 2011 PubMed: Wang 2003
Remarks She has an affected fraternal twin Brother.
Gender F
Consanguinity no
Country Scotland
Population -
Age/Death >04y (later than 4 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases PN
Owner name Elisa Adele Colombo


Phenotypes

poikiloderma, with neutropenia (PN) (PN)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000069482 poikiloderma; neutropenia since Birth; recurrent sinopulmonary infections; hyperkeratosis; calcinosis cutis; nail dystrophy - - Familial, autosomal recessive 02y? - 00y02m - - Elisa Adele Colombo



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000090254 DNA PCR;SEQ - - USB1 2 Elisa Adele Colombo



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
16 Unknown +?/+? g.58048216_58048219del4 g.58014312_58014315del4 - - USB1_000017 - PubMed: Clericuzio et al. 2011 - - Germline yes - - 0 - Elisa Adele Colombo USB1 - - - - - 4 NM_024598.3:c.489_492del4 - - r.? p.(Asn163Lysfs*101) - - - - - - - - - - - - - - - - - - -
16 Unknown +?/+? g.58052960G>T g.58019056G>T - - USB1_000018 - - - - Germline yes - - 0 - Elisa Adele Colombo USB1 - - - - - 6i NM_024598.3:c.693+1G>T - - r.610_693del p.(Asp204_Gln231del) - - - - - - - - - - - - - - - - - - -
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