Variant #0000691461 (NC_000013.10:g.102521148C>T, FGF14(NM_004115.3):c.335G>A)

Chromosome 13
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.102521148C>T
DNA change (hg38) -
Published as FGF14(NM_004115.3):c.335G>A (p.R112H)
ISCN -
DB-ID FGF14_000030
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_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FGF14 NM_004115.3 ?/. - c.335G>A r.(?) p.(Arg112His)