Screening #0000034481

Individual ID 00034414
Template DNA
Technique PCR
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 17437 5526 2019-07-21 BMD, BMD/DMD, CMD-3B, DMD
GK glycerol kinase X p21.3 1 103 74 2019-07-12 GKD
IL1RAPL1 interleukin 1 receptor accessory protein-like 1 X p22.1-p21.3 1 70 56 2019-07-12 ID, MRX-21;MRX-34, MRX;IDX
NR0B1 nuclear receptor subfamily 0, group B, member 1 X p21.3 1 158 141 2019-06-09 AHC, SRXY-2



Variants found

1 entry on 1 page. Showing entry 1.
Legend  

Chr     

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
X Unknown g.(25040000_28600000)_(31241239_31279071)del - - - DMD_003416 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial) PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - Johan den Dunnen DMD, GK, IL1RAPL1, NR0B1 +/+ - - - - - 63i_79_, _1_21_, _1_11_, _1_2_ NM_004006.2:c.(9286+1_9287-1)_(*1_?)del, NM_001205019.1:c.0, NM_014271.3:c.0, NM_000475.4:c.0 - - r.(9287_*2691del), r.0 p.?, p.0 - - - - - - - - - - - - - - - - - - - - - - -
Legend