Individual #00185576

ID_report -
Reference PubMed: Vilarinho 2005
Remarks -
Gender M
Consanguinity -
Country Canada
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases L2HGA
Owner name Gajja Salomons
Database submission license No license selected
Created by Gajja Salomons


Phenotypes

aciduria, L-2-hydroxyglutaric (L2HGA) (L2HGA)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000145707 - L2HGA L2HGA Familial, autosomal recessive - - - - - Gajja Salomons



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000186542 DNA SEQ - - L2HGDH 2 Gajja Salomons



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     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

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Exon     

DNA change (cDNA)     

Haplotype     

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Protein     

P-domain     

Exon_old     

DNA/Legacy     

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Predict/AGVGD     

Predict/Grantham     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
14 Parent #2 +/. - pathogenic (recessive) g.50760840_50760843delinsAAT g.50294122_50294125delinsAAT 529delC - L2HGDH_000046 - PubMed: Vilarinho 2005 - - Germline - - - 0 - Gajja Salomons L2HGDH - - - - - 4 NM_024884.2:c.530_533delinsATT - r.(?) p.Pro177Hisfs*6 - - - - - - - - - - - - - - - - - - - -
14 Parent #1 +/. - pathogenic (recessive) g.50769668G>A g.50302950G>A - - L2HGDH_000029 - PubMed: Vilarinho 2005 - - Germline - - - 0 - Gajja Salomons L2HGDH - - - - - 2 NM_024884.2:c.208C>T - r.(?) p.(Arg70*) - - - - - - - - - - - - - - - - - - - -
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