Individual #00047318

ID_report -
Reference PubMed: Kast 2012
Remarks -
Gender F
Consanguinity -
Country (Germany)
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases MINAS
Owner name 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     
0000034721 neoplasia, multiple inherited alleles; endometrial endometroid adenocarcinoma 46y (loss of MSH6 on IHC) neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000047416 DNA DHPLC;SEQ - - BRCA1 1 James Whitworth
0000047417 DNA DHPLC;SEQ - - MSH6 1 James Whitworth



Variants

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

Allele     

Effect     

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     

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     

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 level     
2 Unknown +/. g.48023090dup g.47795951dup 515_516insT - MSH6_001014 - PubMed: Kast 2012 - - Germline - - - 0 - James Whitworth MSH6 - - - - - 3 NM_000179.2:c.515dup - pathogenic r.(?) p.(Leu173Thrfs*9) - - - - - - - - - - - - - - - - - - -
17 Unknown +/. g.41256985T>C g.43104968T>C - - BRCA1_000062 - PubMed: Kast 2012 - - Germline - - - 0 - James Whitworth BRCA1 - - - - - 5i NM_007294.3:c.213-12A>G - pathogenic r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
Legend