Variant #0000283919 (NC_000013.10:g.102375232C>T, FGF14(NM_004115.3):c.693G>A)

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.102375232C>T
DNA change (hg38) g.101722882C>T
Published as FGF14(NM_175929.2):c.708G>A (p.A236=)
ISCN -
DB-ID FGF14_000016 See all 2 reported entries
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) 0.01064 View details
Owner VKGL-NL_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FGF14 NM_004115.3 -/. - c.693G>A r.(?) p.(Ala231=)