Annotation Detail
Information
- Associated Genes
- FGFR2
- Associated Variants
-
FGFR2 c.1087+1303T>C
(
ENST00000682550.1,
ENST00000613048.4,
ENST00000478859.5,
ENST00000638709.2,
ENST00000369056.5,
ENST00000369059.5,
ENST00000351936.11,
ENST00000358487.10,
ENST00000369060.8,
ENST00000360144.7,
ENST00000357555.9,
ENST00000683211.1,
ENST00000682772.1,
ENST00000369061.8,
ENST00000346997.6,
ENST00000356226.8,
ENST00000684153.1,
ENST00000457416.7 )
FGFR2 c.1087+1303T>C ( 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
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
- Source Database
- ClinVar
- Description
- NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg) AND Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
- ClinVar Allele ID
- 28305
- ClinVar RefSeq Alternation Syntax
- NM_000141.5:c.1024T>C
- ClinVar RefSeq Alternation Syntax
- NR_073009.2:n.1460T>C
- ClinVar RefSeq Alternation Syntax
- NM_001144915.2:c.757T>C
- ClinVar RefSeq Alternation Syntax
- NM_001144916.2:c.679T>C
- ClinVar RefSeq Alternation Syntax
- NM_001144918.2:c.679T>C
- ClinVar RefSeq Alternation Syntax
- NM_001320658.2:c.1024T>C
- ClinVar RefSeq Alternation Syntax
- NM_023029.2:c.757T>C
- ClinVar RefSeq Alternation Syntax
- NM_001320654.2:c.340T>C
- ClinVar RefSeq Alternation Syntax
- NM_001144913.1:c.1087+1303T>C
- ClinVar RefSeq Alternation Syntax
- NM_022970.4:c.1087+1303T>C
- ClinVar RefSeq Alternation Syntax
- NM_001144919.2:c.820+1303T>C
- ClinVar RefSeq Alternation Syntax
- NM_001144917.2:c.939+2600T>C
- ClinVar RefSeq Alternation Syntax
- NM_001144914.1:c.749-2060T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014180
- ClinVar Disease
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
- Pubmed
- 7719345
- Pubmed
- 10633130
- Pubmed
- 7987400
- Pubmed
- 8528214
Drugs