Individual #00200306

ID_report -
Reference -
Remarks -
Gender ?
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Michael Woods


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201276 DNA ? - - PMS2 2 Michael Woods



Variants

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

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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

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     

Legacy protein change     

Protein level     
7 Parent #2 +/. - pathogenic g.(6027252_6029430)_(6031689_6035164)del - Deletion of Exon 9-10 - PMS2_000195 - PubMed: Senter 2008 - - Germline - - - 0 - Michael Woods PMS2 - - - - - 8i_10i NM_000535.5:c.(903+1_904-1)_(1144+1_1145-1)del - r.(?) p.(Cys303Thrfs*2) - - - - - - - - - - - - - - - - - - - -
7 Parent #1 +?/. - likely pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 - PubMed: Senter 2008 - - Germline - - - 0 - Michael Woods PMS2 - - - - - 1 NM_000535.5:c.1A>G - r.(?) p.(Met1?) - - - - - - - - - - - - - - - - - - - -
Legend