Individual #00218598

ID_report 09352843-Pat1
Reference PubMed: Zigman 1997
Remarks -
Gender M
Consanguinity -
Country (United States)
Population (American)
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases BRRS
Owner name Karl Heinimann
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2018-07-07 12:48:23 +02:00 (CEST)
Date last edited 2020-07-14 16:02:23 +02:00 (CEST)


Phenotypes

Bannayan-Riley-Ruvalcaba syndrome (BRRS) (BRRS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000167080 BRRS - - Unknown - - - - - Karl Heinimann



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000219668 DNA microscope - screening BMPR1A 4 Karl Heinimann



Variants

4 entries on 1 page. Showing entries 1 - 4.
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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     

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/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
9 Unknown ?/. - VUS g.pter_(4600001_9000000)delins[NC_000010.10:(97000001_99300000)_qterinv] - - 46,XY,der(9)t(9;10)(p24.1;q24.1), der(10)del(10)(q23.2q24.1)t(9;10)(p24.1;q23.2) chr9_004321 - PubMed: Zigman 1997 - - De novo - - - - - Johan den Dunnen - - - - - - - - - - - - - - - - - - - - - - -
9 Unknown +/. - pathogenic g.[NC_000010.10:(97000001_99300000)_qter]delinspter_(4600001_9000000)inv - - 46,XY,der(9)t(9;10)(p24.1;q24.1), der(10)del(10)(q23.2q24.1)t(9;10)(p24.1;q23.2) chr9_004322 - PubMed: Zigman 1997 - - DUPLICATE record - - - - - Johan den Dunnen - - - - - - - - - - - - - - - - - - - - - - -
10 Unknown +/+ ACMG pathogenic g.(97000001_99300000)_qterdelins[NC_000009.11:pter_(4600001_9000000)inv] - - 46,XY,der(9)t(9;10)(p24.1;q24.1), der(10)del(10)(q23.2q24.1)t(9;10)(p24.1;q23.2) BMPR1A_000105 ACMG PVS1, PS2 PubMed: Zigman 1997 - - De novo - - - - - Karl Heinimann BMPR1A - - - - _1_13_ NM_004329.2:c.0 - r.0 p.0 - - - - - - - - - - - - - -
10 Unknown ?/. - VUS g.[NC_000009.11:pter_(4600001_9000000)]delins(97000001_99300000)_qterinv - - 46,XY,der(9)t(9;10)(p24.1;q24.1), der(10)del(10)(q23.2q24.1)t(9;10)(p24.1;q23.2) chr10_003797 - PubMed: Zigman 1997 - - DUPLICATE record - - - - - Johan den Dunnen - - - - - - - - - - - - - - - - - - - - - - -
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