Variant #0000729939 (NC_000010.10:g.123279562C>G, FGFR2(NM_000141.4):c.870G>C)

Individual ID 00331438
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.123279562C>G
DNA change (hg38) g.121520048C>G
Published as NM_000141.4:c.870G>C:p.(Trp290Cys)
ISCN -
DB-ID FGFR2_000007 See all 3 reported entries
Variant remarks -
Reference PubMed: Maddirevula 2018
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FGFR2 NM_000141.4 +/. - c.870G>C r.(?) p.(Trp290Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000332657 DNA SEQ;SEQ-NG - WES FGFR2 1 LOVD