Variant #0000549686 (NC_000013.10:g.102568918G>A, FGF14(NM_004115.3):c.78C>T)

Chromosome 13
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.102568918G>A
DNA change (hg38) g.101916568G>A
Published as FGF14(NM_004115.3):c.78C>T (p.A26=)
ISCN -
DB-ID FGF14_000027
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00026 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.78C>T r.(?) p.(Ala26=)