Individual #00185635

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases Healthy/Control
Owner name Gajja Salomons
Database submission license No license selected
Created by Gajja Salomons


Phenotypes

Healthy individual / control (Healthy/Control)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000145766 - - - Unknown - - - - - Gajja Salomons



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000186601 DNA SEQ - - L2HGDH 2 Gajja Salomons



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
14 Parent #2 -/? - benign g.50778770C>A g.50312052C>A - - L2HGDH_000080 - rs35710558 - - Germline - 0.04 - - - Gajja Salomons L2HGDH - - - - 1 NM_024884.2:c.99G>T - r.(?) p.(Arg33Ser) - - - - - - - - - - - - - -
14 Parent #1 -/. - benign g.50778816A>C g.50312098A>C - - L2HGDH_000079 - rs2275591 - - Germline - 0.49-0.70 - - - Gajja Salomons L2HGDH - - - - 1 NM_024884.2:c.53T>G - r.(?) p.(Leu18Arg) - - - - - - - - - - - - - -
Legend   How to query