Individual #00218466

ID_report Fam1Pat5
Reference Journal: Cao 2006, Journal: Cheah 2009
Remarks -
Gender F
Consanguinity -
Country Singapore
Population (Asian)
Age at death -
VIP 0
Data_av -
Treatment -
Panel ID 00218464
Panel size 1
Diseases HMPS2
Owner name Karl Heinimann
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

polyposis syndrome, hereditary mixed, type 2 (HMPS-2) (HMPS2)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000166948 HMPS - - Unknown - - - - - Karl Heinimann



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000219536 DNA MLPA - screening BMPR1A 1 Karl Heinimann



Variants

1 entry on 1 page. Showing entry 1.
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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     

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     
10 Unknown +/+ ACMG pathogenic g.(?_88516396)_(88635843_88649818)del - 5'UTR - Exon 1 del - BMPR1A_000110 ACMG PVS1, PP1-S, PM2 Journal: Cao 2006, Journal: Cheah 2009 - - Germline - - - 0 - Karl Heinimann BMPR1A - - - - - _1_3i NM_004329.2:c.(?_-548)_(67+1_68-1)del - r.0? p.0? - - - - - - - - - - - - - - - - - - -
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