Individual #00057924

ID_report -
Reference PubMed: Colombo 2012
Remarks -
Gender M
Consanguinity yes
Country Turkey
Population Caucasian
Age/Death >11y (later than 11 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases PN
Owner name Ludovica Volpi


Phenotypes

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

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

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Protein     

Owner     
0000044574 Poikiloderma, neutropenia, plantar hyperkeratosis with desquamation, pachyonychia, caries tendency, saddle nose, widening of femoral metaphysis, recurrent pulmonary infections, low stature (<3rd centile) - - Familial, autosomal recessive - 10y 00y06m - - Ludovica Volpi



Screenings


AscendingScreening ID     

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Tissue     

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Variants found     

Owner     
0000057887 DNA;RNA PCR;RT-PCR;SEQ - - USB1 2 Ludovica Volpi



Variants

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

Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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VIP     

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IDbase Accession Number     

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Protein     

P-domain     

Exon_old     

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Predicted     

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CpG     

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mRNA level     

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Protein level     
16 Paternal (confirmed) g.58051265delA g.58017361delA - - USB1_000007 - Colombo ASHG 2010 meeting, PubMed: Walne 2010 - - Germline yes - - 0 - Lidia Larizza USB1 +/+ - - - - - 5 NM_024598.3:c.531delA - - r.531delA p.His179Metfs*86 - - - - - - - - - - - - - - - - - - -
16 Maternal (confirmed) g.58051265delA g.58017361delA - - USB1_000007 - Colombo ASHG 2010 meeting, PubMed: Walne 2010 - - Germline yes - - 0 - Lidia Larizza USB1 +/+ - - - - - 5 NM_024598.3:c.531delA - - r.531delA p.His179Metfs*86 - - - - - - - - - - - - - - - - - - -
Legend