Variant #0000549688 (NC_000013.10:g.103054004T>C, FGF14(NM_004115.3):c.-485009A>G)

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.103054004T>C
DNA change (hg38) g.102401654T>C
Published as FGF14(NM_175929.2):c.25A>G (p.(Arg9Gly))
ISCN -
DB-ID FGF14_000029
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) Variant not found in online data sets
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FGF14 NM_004115.3 -?/. - c.-485009A>G r.(?) p.(=)