Genomic variant #0000061570

Individual ID 00034410
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.(30328000_30670000)_(33229674_?)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID DMD_040082
Variant remarks deletion incl. GK and DMD
Reference PubMed: Zhang 2004, Journal: Zhang 2004
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
GK NM_001205019.1 +/+ _1_21_ c.0 - r.0 p.0
DMD NM_004006.2 +/+ _1_79_ c.(?_-244)_(*2691_?)del pathogenic (recessive) r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034477 DNA PCR - - DMD, GK 1 Johan den Dunnen