Individual #00249681

ID_report Fam9-1
Reference PubMed: Cortese 2019
Remarks 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents
Gender M
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases ataxia
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

ataxia (ataxia)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

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Phenotype details     

Inheritance     

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Protein     

Owner     
0000188554 late-onset ataxia CANVAS peripheral neuropathy (HP:0009830); no cerebellar dysfunction; vestibular areflexia (HP:0008568); autonomic dysfunction (HP:0012332) (erectile dysfunction); cough (HP:0012735); absent; reduced sensory action potentials lower limbs; normal compound motor action potential; Familial, autosomal recessive 68y 45y unsteadiness in the dark, numb hands - Johan den Dunnen



Screenings


AscendingScreening ID     

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Remarks     

Genes screened     

Variants found     

Owner     
0000250788 DNA PCR;SEQ;Southern - - RFC1 2 Johan den Dunnen



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)     

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ISCN     

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Predicted     

Type/DNA     

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CpG     

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Legacy protein change     

Protein level     
4 Parent #2 +/. - pathogenic (recessive) g.39350043_39350099AAGGG[(1480)] g.39348423_39348479AAGGG[(1480)] - - RFC1_000017 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen RFC1 - - - - - 2i NM_002913.4:c.132+2869_132+2925CCCTT[(1480)] - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
4 Parent #1 +/. - pathogenic (recessive) g.39350043_39350099AAGGG[(880)] g.39348423_39348479AAGGG[(880)] - - RFC1_000002 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen RFC1 - - - - - 2i NM_002913.4:c.132+2869_132+2925CCCTT[(880)] - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
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