Individual #00060204

ID_report -
Reference -
Remarks 1 familie, 3 patients
Gender M
Consanguinity yes
Country Spain
Population Hispanic
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases BBS
Owner name María González-del Pozo
Database submission license No license selected
Created by María González-del Pozo


Phenotypes

Bardet-Biedl syndrome (BBS) (BBS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Inheritance     

Age/Examination     

Age/Diagnosis     

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Phenotype/Onset     

Protein     

Owner     
0000046694 retinitis pigmentosa, postaxial polydactyly, weight gain anomaly, learning disabilities, kidney cysts, poor coordination - - Familial, autosomal recessive - - <10y - - María González-del Pozo



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000060191 DNA SEQ-NG-S - - MKKS 2 María González-del Pozo



Variants

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

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

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Reference     

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Owner     

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IDbase Accession Number     

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Exon     

DNA change (cDNA)     

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P-domain     

Exon_old     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

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Legacy protein change     

Protein level     
20 Paternal (confirmed) +?/. - likely pathogenic g.10388350C>A g.10407702C>A - - MKKS_000047 - PubMed: González-del Pozo 2014 - - Germline yes - - 0 - María González-del Pozo MKKS - - - - 5 NM_170784.2:c.1186G>T - r.(?) p.(Val396Phe) - - - - - - - - - - - - - - - - - - -
20 Maternal (confirmed) +?/. - likely pathogenic g.10393894T>C g.10413246T>C - - MKKS_000046 - PubMed: González-del Pozo 2014 - - Germline yes - - 0 - María González-del Pozo MKKS - - - - 3 NM_170784.2:c.269A>G - r.(?) p.(Asp90Gly) - - - - - - - - - - - - - - - - - - -
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