Variant #0000283174 (NC_000010.10:g.123325158G>A, FGFR2(NM_000141.4):c.170C>T)

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.123325158G>A
DNA change (hg38) g.121565644G>A
Published as FGFR2(NM_000141.4):c.170C>T (p.(Ser57Leu), p.S57L), FGFR2(NM_022970.3):c.170C>T (p.S57L)
ISCN -
DB-ID FGFR2_000086 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) 0.00487 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FGFR2 NM_000141.4 -/. - c.170C>T r.(?) p.(Ser57Leu)