Variant #0000287438 (NC_000010.10:g.123279677G>A, FGFR2(NM_000141.4):c.755C>T)

Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.123279677G>A
DNA change (hg38) g.121520163G>A
Published as FGFR2(NM_000141.4):c.755C>T (p.S252L)
ISCN -
DB-ID FGFR2_000077
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) 6.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FGFR2 NM_000141.4 +/. - c.755C>T r.(?) p.(Ser252Leu)