Variant #0000549683 (NC_000013.10:g.102375289A>G, FGF14(NM_004115.3):c.636T>C)

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.102375289A>G
DNA change (hg38) g.101722939A>G
Published as FGF14(NM_175929.2):c.651T>C (p.H217=)
ISCN -
DB-ID FGF14_000025 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 -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0013 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.636T>C r.(?) p.(His212=)