Genomic variant #0000240380

Individual ID 00146626
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.47260140T>C
DNA change (hg38) g.46756883T>C
Published as -
ISCN -
DB-ID FKRP_000059 See all 12 reported entries
Variant remarks -
Reference PubMed: Mercuri 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
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.1433T>C r.(?) p.(Ile478Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000147482 DNA SEQ - - FKRP 2 Johan den Dunnen