Variant #0000040229 (NC_000010.10:g.123279677G>C, FGFR2(NM_000141.4):c.755C>G)

Individual ID 00019798
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>C
DNA change (hg38) g.121520163G>C
Published as -
ISCN -
DB-ID FGFR2_000001 See all 7 reported entries
Variant remarks -
Reference PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Karen E. Heath
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Karen E. Heath
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     
0000019782 DNA SEQ - - FGFR2 1 Karen E. Heath