Genomic variant #0000240384

Individual ID 00146627
Chromosome 19
Allele Maternal (confirmed)
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.47259048C>G
DNA change (hg38) g.46755791C>G
Published as -
ISCN -
DB-ID FKRP_000016 See all 37 reported entries
Variant remarks -
Reference PubMed: Driss, PubMed: Driss
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00769 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.341C>G r.(?) p.(Ala114Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000147483 DNA SEQ - - FKRP 4 Johan den Dunnen