Screening #0000123177

Individual ID 00122709
Template DNA;RNA
Technique PTT;RT-PCR;SEQ
Tissue -
Remarks -
Variants found? 1
Owner name Mireille Claustres


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
DMD dystrophin X p21.2 1 18477 5618 2019-10-22 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 Parent #1 +/. g.32669194T>G g.32651077T>G IVS9-5925A>C - DMD_001367 RNA muscle, major transcript with insertion PubMed: Tuffery 2005, UMD 1459 database - - Germline - - - 0 - Mireille Claustres DMD - - - - - 9i NM_004006.2:c.961-5925A>C - pathogenic (recessive) r.[960_961ins961-5922_961-5833, =] p.[His321Argfs*7, =] - - - - - - - - - - - - - - - - - - -
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