Screening #0000123140

Individual ID 00122672
Template DNA
Technique SSCA
Tissue -
Remarks -
Variants found? 2
Owner name Franziska Joncourt


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

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     
X Maternal (inferred) ?/. g.31496426T>C g.31478309T>C - - DMD_000061 - PubMed: Prior 2005 - - Germline - - - 0 - Franziska Joncourt DMD - - - - - 59 NM_004006.2:c.8734A>G - VUS r.(?) p.(Asn2912Asp) - - - - - - - - - - - - - - - - - - -
X Maternal (inferred) ?/. g.31496431T>C g.31478314T>C - - DMD_000949 - PubMed: Prior 2005 - - Germline - - - 0 - Franziska Joncourt DMD - - - - - 59 NM_004006.2:c.8729A>G - VUS r.(=) p.(Glu2910Gly) - - - - - - - - - - - - - - - - - - -
Legend