Screening #0000241524

Individual ID 00240414
Template DNA
Technique SEQ;SEQ-NG
Tissue -
Remarks WES
Variants found? 2
Owner name Johan den Dunnen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
MECR mitochondrial trans-2-enoyl-CoA reductase 1 p35.3 1 23 15 2019-06-28 DYTOABG



Variants found

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

Chr     

Allele     

Effect     

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     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

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     

Protein level     
1 Parent #1 +/. g.29527086G>A - - - MECR_000008 - PubMed: Heimer 2016 - - Germline yes - - 0 - Johan den Dunnen MECR - - - - - - NM_016011.2:c.772C>T - pathogenic (recessive) r.(?) p.(Arg258Trp) - - - - - - - - - - - - - - - - - - -
1 Parent #2 +/. g.29543124_29543127del - - - MECR_000009 - PubMed: Heimer 2016 - - Germline yes - - 0 - Johan den Dunnen MECR - - - - - - NM_016011.2:c.247_250del - pathogenic (recessive) r.(?) p.(Asn83Hisfs*4) - - - - - - - - - - - - - - - - - - -
Legend