Annotation Detail
Information
- Associated Genes
- FGFR2
- Associated Variants
-
FGFR2 p.Ser252Phe (p.S252F)
(
ENST00000360144.7,
ENST00000369060.8,
ENST00000358487.10,
ENST00000351936.11,
ENST00000369059.5,
ENST00000369056.5,
ENST00000638709.2,
ENST00000478859.5,
ENST00000613048.4,
ENST00000682550.1,
ENST00000457416.7,
ENST00000684153.1,
ENST00000356226.8,
ENST00000346997.6,
ENST00000369061.8,
ENST00000682772.1,
ENST00000683211.1,
ENST00000357555.9 )
FGFR2 p.Ser252Phe (p.S252F) ( 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
- Acrocephalosyndactyly type I
- Source Database
- ClinVar
- Description
- NM_000141.5(FGFR2):c.755_756delinsTT (p.Ser252Phe) AND Acrocephalosyndactyly type I
- ClinVar Allele ID
- 28318
- ClinVar RefSeq Alternation Syntax
- NM_023029.2:c.488_489delinsTT
- ClinVar RefSeq Alternation Syntax
- NM_022969.1:c.755_756delCGinsTT
- ClinVar RefSeq Alternation Syntax
- NM_001144918.2:c.410_411delinsTT
- ClinVar RefSeq Alternation Syntax
- NM_000141.5:c.755_756delinsTT
- ClinVar RefSeq Alternation Syntax
- NM_001144913.1:c.755_756delinsTT
- ClinVar RefSeq Alternation Syntax
- NM_001144917.2:c.755_756delinsTT
- ClinVar RefSeq Alternation Syntax
- NM_001320654.2:c.71_72delinsTT
- ClinVar RefSeq Alternation Syntax
- NM_001320658.2:c.755_756delinsTT
- ClinVar RefSeq Alternation Syntax
- NM_001144916.2:c.410_411delinsTT
- ClinVar RefSeq Alternation Syntax
- NM_001144914.1:c.749-4844_749-4843delinsTT
- ClinVar RefSeq Alternation Syntax
- NM_022970.4:c.755_756delCGinsTT
- ClinVar RefSeq Alternation Syntax
- NM_001144915.2:c.488_489delinsTT
- ClinVar RefSeq Alternation Syntax
- NM_001144919.2:c.488_489delinsTT
- ClinVar RefSeq Alternation Syntax
- NR_073009.2:n.1043_1044delinsTT
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2016-09-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014201
- ClinVar Disease
- Acrocephalosyndactyly type I
- Observed Origin Sample
- germline
- Pubmed
- 9002682
- Pubmed
- 10067911
Drugs