Individual #00057921

ID_report -
Reference PubMed: Volpi 2010, PubMed: Concolino 2010
Remarks -
Gender M
Consanguinity yes
Country Italy
Population Caucasian
Age/Death >25y (later than 25 years)
VIP 0
Data_av -
Treatment -
Panel size 2
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     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000044571 poikiloderma, non cyclic neutropenia, pachyonichia; midface hypoplasia, depressed nasal bridge, mild prognathism, frontal bossing, carious teeth, hyperlaxity of fingers, splenomegalia - - Familial - 21y 6m - - Ludovica Volpi



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

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Variants found     

Owner     
0000057884 DNA;RNA PCR;RT-PCR;SEQ-NG-I - - 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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Reference     

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VIP     

Methylation     

Owner     

Gene     

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IDbase Accession Number     

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Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
16 Paternal (confirmed) +/+ g.58051236A>C g.58017332A>C - - USB1_000001 - {PMID20004881:Volpi 2010}, PubMed: Concolino 2010, OMIM:var0001 - - Germline yes - - 0 - Lidia Larizza USB1 - - - - - 4i NM_024598.3:c.504-2A>C - - r.504_609del p.Thr169Ilefs*61 - - - - - - - - - - - - - - - - - - -
16 Maternal (confirmed) +/+ g.58051236A>C g.58017332A>C - - USB1_000001 - {PMID20004881:Volpi 2010}, PubMed: Concolino 2010, OMIM:var0001 - - Germline yes - - 0 - Lidia Larizza USB1 - - - - - 4i NM_024598.3:c.504-2A>C - - r.504_609del p.Thr169Ilefs*61 - - - - - - - - - - - - - - - - - - -
Legend