Individual #00057920

ID_report -
Reference PubMed: Colombo 2012; PubMed: Altunay 2010
Remarks -
Gender M
Consanguinity yes
Country Turkey
Population Caucasian
Age/Death >23y (later than 23 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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Protein     

Owner     
0000044570 Widespread poikiloderma, neutropenia, sun intolerance, erithema, saddle nose, maxillary hypoplasia, micrognathia, zygodactylya, osteopenia, recurrent leg ulcelrs with severe sepsis, low stature, hypogonadism. - - Familial, autosomal recessive - 22y 00y06m - - Ludovica Volpi



Screenings


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Variants found     

Owner     
0000057883 DNA;RNA PCR;RT-PCR;SEQ - - USB1 2 Ludovica Volpi



Variants

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

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

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Protein     

P-domain     

Exon_old     

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Protein level     
16 Paternal (inferred) +/+ g.58036551T>G g.58002647T>G - - USB1_000005 - PubMed: Colombo et al. 2012 - - Germline yes - - 0 - Lidia Larizza USB1 - - - - - 2i NM_024598.3:c.265+2T>G - - r.spl p.(Tyr89Trpfs*3) - - - - - - - - - - - - - - - - - - -
16 Maternal (inferred) +/+ g.58036551T>G g.58002647T>G - - USB1_000005 - - - - Germline yes - - 0 - Lidia Larizza USB1 - - - - - 2i NM_024598.3:c.265+2T>G - - r.spl p.(Tyr89Trpfs*3) - - - - - - - - - - - - - - - - - - -
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