Genomic variant #0000240638

Individual ID 00146761
Chromosome 19
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.47259533C>A
DNA change (hg38) g.46756276C>A
Published as -
ISCN -
DB-ID FKRP_000001 See all 360 reported entries
Variant remarks -
Reference PubMed: Guglieri 2007
ClinVar ID -
dbSNP ID rs28937900
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00045 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FKRP NM_024301.4 +/. 4 c.826C>A r.(?) p.(Leu276Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000147617 DNA SEQ - - FKRP 2 Johan den Dunnen