Screening #0000049808

Individual ID 00049887
Template DNA
Technique MIC;PFGE;Southern
Tissue -
Remarks -
Variants found? 4
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 27237 7073 2020-08-07 BMD, BMD/DMD, CMD-3B, DMD, hCK



Variants found

4 entries on 1 page. Showing entries 1 - 4.
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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     
11 Unknown +/. - pathogenic g.(114500001_121200000)_qterdelins[NC_000023.10:pter_(31889716_32323858)inv] - - t(X;11)(p21.2;q23.3) chr11_000792 translocation, derivative chr11 PubMed: Meitinger 1988, Journal: Meitinger 1988 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown +/+ - pathogenic g.[NC_000023.10:pter_(31889716_32323858)]delins(114500001_121200000)_qterinv - - t(X;11)(p21.2;q23.3) chr11_000800 translocation, derivative chrX PubMed: Meitinger 1988, Journal: Meitinger 1988 - - DUPLICATE record - - - 0 - Johan den Dunnen - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
X Unknown +/+ - pathogenic (recessive) g.pter_(31889716_32323858)delins[NC_000011.9:(114500001_121200000)_qterinv] - - t(X;11)(p21.2;q23.3) DMD_003125 translocation disrupting SfiI fragment E-F PubMed: Meitinger 1988, Journal: Meitinger 1988 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen DMD - - - - - 42i_48i NM_004006.2:c.(6117+4341_7098+3582)::? - r.? p.? - - - - - - - - - - - - - - - - - - - -
X Unknown +/+ - pathogenic (recessive) g.[NC_000011.9:(114500001_121200000)_qter]delinspter_(31889716_32323858)inv - - t(X;11)(p21.2;q23.3) DMD_035960 translocation disrupting SfiI fragment E-F PubMed: Meitinger 1988, Journal: Meitinger 1988 - - DUPLICATE record - - - 0 - Johan den Dunnen DMD - - - - - _42_48_ NM_004006.2:c.?::(6117+4341_7098+3582) - r.? p.? - - - - - - - - - - - - - - - - - - - -
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