Individual #00440095

ID_report MSM53
Reference PubMed: Latham 1991
Remarks -
Gender -
Consanguinity -
Country United States
Population jew-Sephardic;jew-Ashkenazi
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases GD1
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-10-27 17:07:55 +02:00 (CEST)
Date last edited 2023-10-27 17:11:14 +02:00 (CEST)


Phenotypes

Gaucher disease, type I (GD1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000329993 see paper; ..., severe splenomegaly Gaucher disease GD1 Familial, autosomal recessive - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000441579 DNA SEQ - - GBA 2 Johan den Dunnen



Variants

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

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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     
1 Parent #2 +/. - pathogenic (recessive) g.155205634T>C g.155235843T>C 5841G - GBA_000005 - PubMed: Latham 1991 - - Germline - - - - - Johan den Dunnen GBA - - - - - NM_000157.3:c.1226A>G - r.(?) p.(Asn409Ser) - - - - - - - - - - - - - -
1 Parent #1 +/. - pathogenic (recessive) g.155207932_155208420delins155186655_155187144del g.155238141_155238630delins155216864_155217353 3059T;3461C;3475G;3483G;3497C;3515A;3548A - GBA_000089 likely copied from GBA pseudogene PubMed: Latham 1991 - - Germline - - - - - Johan den Dunnen GBA - - - - - NM_000157.3:c.476_754delins[NR_002188.2:n.522_801del] - r.(?) p.(Arg159Trp;Trp223Arg;Asn227Lys;Val230Gly;Ser235Pro;Gly241Arg;Phe252Ile) - - - - - - - - - - - - - -
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