Individual #00072357

ID_report -
Reference -
Remarks OMIM600857:0002; 1 isolated case
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases LS
Owner name Tonino Ercolino


Phenotypes

syndrome, Leigh (LS) (LS)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000052027 - Familial, autosomal recessive - - - - - - - Tonino Ercolino



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072514 DNA RT-PCR;SEQ - - SDHA 2 Tonino Ercolino



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Chr     

Allele     

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     

Effect     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
5 Parent #1 g.218471A>C g.218356A>C A25 C - SDHA_000001 - PubMed: Parfait - - Germline - - + BslI, -NlaIII 0 - Tonino Ercolino SDHA ?/? - - - - - 1 NM_004168.2:c.1A>C - - r.? p.? - - - - - - - - - - - - 0 - - - - - - - - - -
5 Parent #2 g.251126C>T g.251011C>T C1595 T; A524 V - SDHA_000003 - PubMed: Parfait - - Unknown - - -Fnu4 HI 0 - Tonino Ercolino SDHA ?/? - - - - - 12 NM_004168.2:c.1571C>T - - r.(?) p.(Ala524Val) - - - - - - - - - - - - - - - - - - - - - - -
Legend