Variant #0000253048 (NC_000010.10:g.123310871A>G, FGFR2(NM_000141.4):c.557T>C)

Chromosome 10
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.123310871A>G
DNA change (hg38) g.121551357A>G
Published as FGFR2(NM_000141.4):c.557T>C (p.M186T), FGFR2(NM_022970.3):c.557T>C (p.M186T)
ISCN -
DB-ID FGFR2_000080 See all 3 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) 0.04459 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.557T>C r.(?) p.(Met186Thr)