Variant #0000256297 (NC_000013.10:g.102521103A>T, FGF14(NM_004115.3):c.380T>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.102521103A>T
DNA change (hg38) g.101868753A>T
Published as FGF14(NM_175929.2):c.395T>A (p.M132K)
ISCN -
DB-ID FGF14_000024 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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FGF14 NM_004115.3 ?/. - c.380T>A r.(?) p.(Met127Lys)