Individual #00089060

ID_report -
Reference PubMed: Suter et al.2016
Remarks -
Gender ?
Consanguinity ?
Country ? (unknown)
Population -
Age/Death -
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     

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Owner     
0000068448 poikiloderma, neutropenia, short stature, hypogonadotropic hypogonadism (on hormonal replacement therapy) and noncaseating granuloma involving the lungs with interstitial lung disease and bronchiectasis. - - Familial, autosomal recessive ? ? ? - - Elisa Adele Colombo



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000089205 DNA PCR;SEQ - - USB1 1 Elisa Adele Colombo



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Protein level     
16 Both (homozygous) +?/+? g.58043901dupC g.58009997dupC - - USB1_000022 - PubMed: Suter 2016 - - Germline/De novo (untested) - - - 0 - Elisa Adele Colombo USB1 - - - - - 3 NM_024598.3:c.334dupC - - r.(?) p.(Arg112Profs*63) - - - - - - - - - - - - - - - - - - -
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