Screening #0000063264

Individual ID 00043856
Template DNA
Technique ?
Tissue -
Remarks -
Variants found? 1
Owner name Manuel F. Mas Rodriguez


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
DMD dystrophin X p21.2 1 18577 5761 2019-12-10 BMD, BMD/DMD, CMD-3B, DMD



Variants found

1 entry on 1 page. Showing entry 1.
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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     
X Maternal (inferred) +/. g.(31152276_31164473)_(31164473_31165511)del g.(31134159_31146356)_(31146356_31147394)del c.(10797+1_10798-1)_(10921+1_100922-1)del - DMD_017676 not listed in paper PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - 0 - Manuel F. Mas Rodriguez DMD - - - - - 75i_76i NM_004006.2:c.(10678_10856)_(10856_10957)del - pathogenic (recessive) r.(del) p.(del) - - - - - - - - - - - - - - - - - - -
Legend