Annotation Detail

Information
Associated Genes
FGFR2
Associated Variants
FGFR2 p.Gly261Arg (p.G261R) ( ENST00000357555.9, ENST00000683211.1, ENST00000682772.1, ENST00000369061.8, ENST00000346997.6, ENST00000356226.8, ENST00000684153.1, ENST00000457416.7, ENST00000613048.4, ENST00000682550.1, ENST00000478859.5, ENST00000638709.2, ENST00000369056.5, ENST00000369059.5, ENST00000358487.10, ENST00000369060.8, ENST00000351936.11, ENST00000360144.7 )
FGFR2 p.Gly261Arg (p.G261R) ( ENST00000346997.6, ENST00000351936.11, ENST00000356226.8, ENST00000357555.9, ENST00000358487.10, ENST00000360144.7, ENST00000369056.5, ENST00000369059.5, ENST00000369060.8, ENST00000369061.8, ENST00000457416.7, ENST00000478859.5, ENST00000613048.4, ENST00000638709.2, ENST00000682550.1, ENST00000682772.1, ENST00000683211.1, ENST00000684153.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg) AND not provided
ClinVar Allele ID
1308724
ClinVar RefSeq Alternation Syntax
NM_001144913.1:c.781G>A
ClinVar RefSeq Alternation Syntax
NM_022969.1:c.781G>A
ClinVar RefSeq Alternation Syntax
NM_001144914.1:c.749-4818G>A
ClinVar RefSeq Alternation Syntax
NM_001144916.2:c.436G>A
ClinVar RefSeq Alternation Syntax
NM_001144917.2:c.781G>A
ClinVar RefSeq Alternation Syntax
NM_022970.4:c.781G>A
ClinVar RefSeq Alternation Syntax
NM_001144918.2:c.436G>A
ClinVar RefSeq Alternation Syntax
NM_001144915.2:c.514G>A
ClinVar RefSeq Alternation Syntax
NM_001320654.2:c.97G>A
ClinVar RefSeq Alternation Syntax
NM_023029.2:c.514G>A
ClinVar RefSeq Alternation Syntax
NM_000141.5:c.781G>A
ClinVar RefSeq Alternation Syntax
NM_001144919.2:c.514G>A
ClinVar RefSeq Alternation Syntax
NM_001320658.2:c.781G>A
ClinVar RefSeq Alternation Syntax
NR_073009.2:n.1069G>A
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2019-10-01
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001766228
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs