Individual #00451595

ID_report 3bINP-046
Reference PubMed: Vela-Amieva 2024
Remarks -
Gender M
Consanguinity no
Country Mexico
Population Mexican
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases CBSD
Owner name Miriam Erandi Reyna-Fabián
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Miriam Erandi Reyna-Fabián
Date created 2024-06-12 18:04:00 +02:00 (CEST)
Date last edited 2025-04-02 09:42:42 +02:00 (CEST)


Phenotypes

homocystinuria, CBS deficiency (CBSD) (CBSD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

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Protein     

Owner     
0000340270 Moderate intellectual disability, lens subluxation, cerebral ischemia Homocystinuria 'Homocystinuria, B6-responsive and nonresponsive types Familial, autosomal recessive - 07y 02y03m - - Miriam Erandi Reyna-Fabián



Screenings


AscendingScreening ID     

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Technique     

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Variants found     

Owner     
0000453196 DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing CBS 1 Miriam Erandi Reyna-Fabián



Variants

1 entry on 1 page. Showing entry 1.
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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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Exon     

DNA change (cDNA)     

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Exon_old     

Function/GVS     

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Predicted     

Type/DNA     

CpG     

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mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
21 Both (homozygous) +/. ACMG pathogenic (recessive) g.44485591G>A g.43065481G>A - - CBS_000159 Martin-Rivada 2022:35281663, Kalil 2020:33335839, Wen 2020:32769498 - ClinVar-132 rs121964973 Germline yes - - - - Miriam Erandi Reyna-Fabián CBS - - - - 7 NM_000071.2:c.572C>T - r.(?) p.(Thr191Met) - - - - - - - - - - - - - -
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