Variant #0000839639 (NC_000010.10:g.123298225C>T, FGFR2(NM_000141.4):c.629G>A)

Individual ID 00402813
Chromosome 10
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.123298225C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID FGFR2_000148
Variant remarks Variant not previously reported in public databases nor literature
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Miriam Erandi Reyna-Fabián
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Miriam Erandi Reyna-Fabián
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FGFR2 NM_000141.4 +?/. 6 c.629G>A r.(?) p.(Arg210Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000404054 DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing - 1 Miriam Erandi Reyna-Fabián