Individual #00226220

ID_report Br4
Reference PubMed: Martins 2019, Journal: Martins 2019
Remarks origin: state of Paraiba
Gender F
Consanguinity no
Country Brazil
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases MPS3C
Owner name Carla Martins
Database submission license No license selected
Created by Carla Martins


Phenotypes

mucopolysaccharidosis, type IIIC (MPS-3C) (MPS3C)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Age/Examination     

Age/Diagnosis     

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Protein     

Owner     
0000171345 Hyperactivity (HP:0000752), intelectual disability, progressive (HP:0006887) - - Familial, autosomal recessive 12y 10y 03y Hyperactivity (HP:0000752) - Carla Martins



Screenings


AscendingScreening ID     

Template     

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Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000227296 DNA SEQ - - HGSNAT 2 Carla Martins



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     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

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Legacy protein change     

Protein level     
8 Parent #2 +?/. - pathogenic (recessive) g.43016612dup g.43161469dup - - HGSNAT_000087 2/11 MPSIIIC alleles in Paraiba, 2/23 MPSIIIC alleles in Brazil PubMed: Martins 2019, Journal: Martins 2019 - rs483352895 Germline - - - 0 - Carla Martins HGSNAT - - - - - 5 NM_152419.2:c.525dup - r.(?) p.(Val176Cysfs*16) - - - - - - - - - - - - - - - - - - -
8 Parent #1 +/. - pathogenic (recessive) g.43027482A>T g.43172339A>T - - HGSNAT_000086 7/11 MPSIIIC alleles in Paraiba, 7/23 MPSIIIC alleles in Brazil PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - Carla Martins HGSNAT - - - - - 8 NM_152419.2:c.773A>T - r.(?) p.(Asn258Ile) - - - - - - - - - - - - - - - - - - -
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