Variant #0000253465 (NC_000013.10:g.102379088A>G, FGF14(NM_004115.3):c.481T>C)

Chromosome 13
Allele Unknown
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.102379088A>G
DNA change (hg38) g.101726738A>G
Published as FGF14(NM_175929.2):c.496T>C (p.L166=)
ISCN -
DB-ID FGF14_000023
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00327 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FGF14 NM_004115.3 -/. - c.481T>C r.(?) p.(Leu161=)