Individual #00117593

ID_report -
Reference -
Remarks -
Gender M
Consanguinity -
Country Turkey
Population Turkish
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases PHOAR2
Owner name Jirko Kühnisch
Database submission license No license selected
Created by Jirko Kühnisch


Phenotypes

osteoarthropathy, hypertrophic, primary, autosomal recessive, type 2 (PHOAR-2) (PHOAR2)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Protein     

Owner     
0000093063 13y-clubbing of finger and toes; periostosis/diaphyseal expansion, arthralgia/swollen joints, hyperhidrosis, pachydermia, cutis gyrata, seborrheic hyperplasia; primary hypertrophic osteoarthropathy - - Familial 21y - - - - Jirko Kühnisch



Screenings


AscendingScreening ID     

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Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000118056 DNA SEQ - - SLCO2A1 4 Jirko Kühnisch



Variants

4 entries on 1 page. Showing entries 1 - 4.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Exon_old     

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Predicted     

Type/DNA     

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CpG     

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Legacy protein change     

Protein level     
3 Paternal (inferred) +/. - pathogenic g.133657293A>G g.133938449A>G - - SLCO2A1_000002 - - - - Germline - - - 0 - Jirko Kühnisch SLCO2A1 - - - - - 12 NM_005630.2:c.1670T>C - r.(?) p.(Phe557Ser) - - - - - - - - - - - - - - - - - - -
3 Maternal (inferred) +/. - pathogenic g.133657293A>G g.133938449A>G - - SLCO2A1_000002 - - - - Germline - - - 0 - Jirko Kühnisch SLCO2A1 - - - - - 12 NM_005630.2:c.1670T>C - r.(?) p.(Phe557Ser) - - - - - - - - - - - - - - - - - - -
3 Paternal (inferred) +/. - pathogenic g.133670090dup g.133951246dup 830_831insT - SLCO2A1_000001 - - - - Germline - - - 0 - Jirko Kühnisch SLCO2A1 - - - - - 6 NM_005630.2:c.830dup - r.(?) p.(Phe278LeufsTer18) - - - - - - - - - - - - - - - - - - -
3 Maternal (inferred) +/. - pathogenic g.133670090dup g.133951246dup 830_831insT - SLCO2A1_000001 - - - - Germline - - - 0 - Jirko Kühnisch SLCO2A1 - - - - - 6 NM_005630.2:c.830dup - r.(?) p.(Phe278LeufsTer18) - - - - - - - - - - - - - - - - - - -
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