Individual #00265901

ID_report PatD1
Reference PubMed: Cummings 2017
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases MD
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000267021 DNA;RNA RT-PCR;SEQ;SEQ-NG - - LARGE 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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     
22 Parent #2 +?/. - likely pathogenic g.33700305C>T g.33304319C>T - - LARGE_000018 - PubMed: Cummings 2017 - - Germline - - - 0 - Johan den Dunnen LARGE - - - - - - NM_004737.4:c.1640G>A - r.(?) p.(Arg547His) - - - - - - - - - - - - - - - - - - -
22 Parent #1 +/. - pathogenic g.33774511_34221251del g.33378525_33825263del - - LARGE_000087 Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Cummings 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen LARGE - - - - - 2i_10i NM_004737.4:c.-83+31477_1131+3394del - r.-82_1131del p.? - - - - - - - - - - - - - - - - - - -
Legend   How to query