Individual #00080954

ID_report -
Reference Trujillano et al., submitted
Remarks unaffected parents
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases THMD-2
Owner name Daniel Trujillano


Phenotypes

thiamine metabolism dysfunction syndrome, type 2 (THMD-2, basal ganglia disease, biotin-responsive) (THMD-2)   Add phenotype for this disease

AscendingPhenotype ID     

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Protein     

Owner     
0000060523 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) (OMIM:607483) - - Familial, autosomal recessive - - - - - Daniel Trujillano



Screenings


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Owner     
0000081066 DNA SEQ;SEQ-NG - - SLC19A3 1 Daniel Trujillano



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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Protein level     
2 Both (homozygous) +/. g.228552932T>C g.227688216T>C - - SLC19A3_000001 - Trujillano et al., submitted - - Germline - - - 0 - Daniel Trujillano SLC19A3 - - - - - - NM_025243.3:c.1264A>G - ACMG: 5 r.(?) p.(Thr422Ala) - - - - - - - - - - - - - - - - - - -
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