Individual #00264004

ID_report -
Reference -
Remarks -
Gender F
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases MINAS
Owner name James Whitworth
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by James Whitworth


Phenotypes

neoplasia, multiple inherited alleles (MINAS) (MINAS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000201862 GIST (gastric), 34y (Loss of SDHB immunostaining and LOH SDHA) - - Unknown - - - - - James Whitworth



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000265133 DNA SEQ-NG-I - - - 1 James Whitworth
0000265134 DNA SEQ-NG-I - - SDHA 1 James Whitworth



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/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
5 Unknown +/. - pathogenic g.223624C>T g.223509C>T - - SDHA_000013 - - - - Germline - - - 0 - James Whitworth SDHA - - - - - NM_004168.2:c.91C>T - r.(?) p.(Arg31*) - - - - - - - - - nonsense - - - - - - - - -
16 Unknown ?/. - pathogenic g.23632683C>T g.23621362C>T - - PALB2_010150 - - - - Germline yes - - 0 - James Whitworth PALB2 - - - - - NM_024675.3:c.3113G>A - r.(?) p.(Trp1038*) - - - - - - - - - - - - - - - - - - -
Legend   How to query