Individual #00165131

ID_report 15060128-Pat8I
Reference PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004
Remarks -
Gender ?
Consanguinity no
Country Netherlands
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ML
Owner name Renata Voltolini Velho
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2018-06-27 14:45:30 +02:00 (CEST)
Date last edited N/A


Phenotypes

mucolipidosis (ML) (ML)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000130028 mucolipidosis ML-3C see paper; ..., no family history, Familial, autosomal recessive - 07y - - - Renata Voltolini Velho



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000166007 DNA;RNA RT-PCR;SEQ - - GNPTG 2 Renata Voltolini Velho



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     

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     
16 Parent #1 +/+ - pathogenic g.1411761C>T g.1361760C>T - - GNPTG_000029 - PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 - - Germline - - - - - Renata Voltolini Velho GNPTG - - - - 4 NM_032520.4:c.196C>T - r.196c>u p.Arg66* - - - - - - - - - - - - - -
16 Parent #2 +/+ - pathogenic g.1412038G>G - IVS5-1G>C - GNPTG_000077 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 - - Germline - - - - - Renata Voltolini Velho GNPTG - - - - 5i NM_032520.4:c.318-1G>G - r.318_411del p.Val107Trpfs*24 - - - - - - - - - - - - - -
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