Variant #0000577981 (NC_000010.10:g.123279677G>C, FGFR2(NM_000141.4):c.755C>G)

Individual ID 00248147
Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
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 ACMG grading: PM2,PS2,PP1,PS3; reported in Wilkie 1995. Nat Genet 9: 165; Anderson 1998. Hum Mol Genet 7: 1475; Slaney 1996. Am J Hum Genet 58: 923
Reference -
ClinVar ID -
dbSNP ID rs79184941
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

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



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000249252 DNA SEQ-NG-S - - - 1 Andreas Laner