Screening #0000229677

Individual ID 00228587
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 1
Owner name Johan den Dunnen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
DMD dystrophin X p21.2 1 27196 7051 2020-07-31 BMD, BMD/DMD, CMD-3B, DMD, hCK



Variants found

1 entry on 1 page. Showing entry 1.
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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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

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     

Legacy protein change     

Protein level     
X Maternal (confirmed) +/. - pathogenic (recessive) g.32481591C>A g.32463474C>A 3028G>T (Glu1010*) - DMD_000935 description corrected after contact with authors PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen DMD - - - - - - NM_004006.2:c.3397G>T - r.(?) p.(Glu1133*) - - - - - - - - - - - - - - - - - - - -
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