Genomic variant #0000240410

Individual ID 00146644
Chromosome 19
Allele Parent #1
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.47259134C>A
DNA change (hg38) g.46755877C>A
Published as -
ISCN -
DB-ID FKRP_000007 See all 26 reported entries
Variant remarks not in 200 control chromosomes
Reference PubMed: Boito 2005
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00363 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.427C>A r.(?) p.(Arg143Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000147500 DNA DHPLC - - FKRP 1 Johan den Dunnen