Variant #0000405880 (NC_000010.10:g.123279677G>C, FGFR2(NM_000141.4):c.755C>G)

Individual ID 00181106
Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.123279677G>C
DNA change (hg38) g.121520163G>C
Published as -
ISCN -
DB-ID FGFR2_000001 See all 7 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs79184941
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Isabel Filges
Database submission license No license selected
Created by Isabel Filges
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FGFR2 NM_000141.4 +/. 7 c.755C>G r.(?) p.(Ser252Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000182063 DNA SEQ-NG - - FGFR2 1 Isabel Filges