Individual #00057919

ID_report -
Reference PubMed: Colombo 2012, PubMed: Migliaccio 1999
Remarks -
Gender F
Consanguinity no
Country Italy
Population Caucasian
Age/Death >22y (later than 22 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     

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Age/Examination     

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Phenotype/Onset     

Protein     

Owner     
0000044569 osteopetrosis at 2 months; increased bone density; sclerosis of vertebrae and skull; delayed skeletal maturation - - Isolated (sporadic) - 21y 6m - - Ludovica Volpi



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000057882 DNA;RNA PCR;RT-PCR;SEQ - - USB1 2 Ludovica Volpi



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     

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Exon     

DNA change (cDNA)     

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ClassClinical     

RNA change     

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P-domain     

Exon_old     

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Predict/AGVGD     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

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Protein level     
16 Paternal (confirmed) +/+ g.58036516C>T g.58002612C>T - - USB1_000008 - PubMed: Colombo et al.2012 Colombo ASHG 2010 meeting - - Germline yes - - 0 - Lidia Larizza USB1 - - - - - 2 NM_024598.3:c.232C>T - - r.232c>u p.Arg78* - - - - - - - - - - - - - - - - - - -
16 Maternal (confirmed) +/+ g.58036516C>T g.58002612C>T - - USB1_000008 - Colombo ASHG 2010 meeting - - Germline yes - - 0 - Lidia Larizza USB1 - - - - - 2 NM_024598.3:c.232C>T - - r.232c>u p.Arg78* - - - - - - - - - - - - - - - - - - -
Legend