Individual #00154505

ID_report Patient 3, family 2
Reference PubMed: Aglaguel 2017
Remarks -
Gender F
Consanguinity yes
Country Morocco
Population -
Age/Death >13y (later than 13 years)
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     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000127241 generalized poikiloderma, pachyonychia, palmoplantar hyperkeratosis, atrophic scars, failure to thrive, photosensitivity, hypogonadism, delayed peberty, neutropenia, decreased number of CD8 cells, bilateral bronchiectasis. - - Unknown - - 00y01m - - Elisa Adele Colombo



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000155363 DNA PCR;SEQ white blood cells - 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)     

Published as     

ISCN     

DB-ID     

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Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

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VariO/RNA     

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     

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Protein level     
16 Both (homozygous) +?/+? g.58051252T>G g.58017348T>G - - USB1_000024 - PubMed: Aglaguel 2017 - - Germline - - - 0 - Elisa Adele Colombo USB1 - - - - - 5 NM_024598.3:c.518T>G - - r.(?) p.(Leu173Arg) - - - - - - - - - - - - - - - - - - -
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