Annotation Detail
Information
- Associated Genes
- FGFR2
- Associated Variants
-
FGFR2 c.109+7033T>C
(
ENST00000360144.7,
ENST00000351936.11,
ENST00000369060.8,
ENST00000358487.10,
ENST00000369059.5,
ENST00000369056.5,
ENST00000359354.6,
ENST00000682550.1,
ENST00000611527.1,
ENST00000613048.4,
ENST00000457416.7,
ENST00000684153.1,
ENST00000356226.8,
ENST00000346997.6,
ENST00000369061.8,
ENST00000683211.1,
ENST00000357555.9,
ENST00000683035.1 )
FGFR2 c.109+7033T>C ( ENST00000346997.6, ENST00000351936.11, ENST00000356226.8, ENST00000357555.9, ENST00000358487.10, ENST00000359354.6, ENST00000360144.7, ENST00000369056.5, ENST00000369059.5, ENST00000369060.8, ENST00000369061.8, ENST00000457416.7, ENST00000611527.1, ENST00000613048.4, ENST00000682550.1, ENST00000683035.1, ENST00000683211.1, ENST00000684153.1 ) - Associated Disease
- FGFR2-related craniosynostosis
- Source Database
- ClinVar
- Description
- NM_000141.5(FGFR2):c.109+7033T>C AND FGFR2-related craniosynostosis
- ClinVar Allele ID
- 1619706
- ClinVar RefSeq Alternation Syntax
- NM_001144917.2:c.109+7033T>C
- ClinVar RefSeq Alternation Syntax
- NM_000141.5:c.109+7033T>C
- ClinVar RefSeq Alternation Syntax
- NM_001144913.1:c.109+7033T>C
- ClinVar RefSeq Alternation Syntax
- NM_001144915.2:c.109+7033T>C
- ClinVar RefSeq Alternation Syntax
- NM_022970.4:c.109+7033T>C
- ClinVar RefSeq Alternation Syntax
- NM_001320658.2:c.109+7033T>C
- ClinVar RefSeq Alternation Syntax
- NM_023029.2:c.109+7033T>C
- ClinVar RefSeq Alternation Syntax
- NM_001144918.2:c.109+7033T>C
- ClinVar RefSeq Alternation Syntax
- NM_001144914.1:c.109+7033T>C
- ClinVar RefSeq Alternation Syntax
- NM_001144916.2:c.109+7033T>C
- ClinVar RefSeq Alternation Syntax
- NM_001144919.2:c.109+7033T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002181484
- ClinVar Disease
- FGFR2-related craniosynostosis
- Observed Origin Sample
- germline
Drugs