Variant #0000612350 (NC_000010.10:g.123310807G>C, FGFR2(NM_000141.4):c.621C>G)

Chromosome 10
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.123310807G>C
DNA change (hg38) g.121551293G>C
Published as FGFR2(NM_022970.3):c.621C>G (p.Y207*)
ISCN -
DB-ID FGFR2_000131
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
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FGFR2 NM_000141.4 ?/. - c.621C>G r.(?) p.(Tyr207Ter)