Annotation Detail
Information
- Associated Genes
- FGFR2
- Associated Variants
-
FGFR2 c.1087+1311G>A
(
ENST00000457416.7,
ENST00000369059.5,
ENST00000369056.5,
ENST00000478859.5,
ENST00000358487.10,
ENST00000369060.8,
ENST00000369061.8,
ENST00000357555.9,
ENST00000356226.8,
ENST00000346997.6,
ENST00000351936.11,
ENST00000360144.7,
ENST00000613048.4,
ENST00000638709.2,
ENST00000682550.1,
ENST00000682772.1,
ENST00000683211.1,
ENST00000684153.1 )
FGFR2 c.1087+1311G>A ( ENST00000638709.2, 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, ENST00000682550.1, ENST00000682772.1, ENST00000683211.1, ENST00000684153.1 ) - Associated Disease
- Jackson-Weiss syndrome Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Crouzon syndrome Bent bone dysplasia syndrome 1 Acrocephalosyndactyly type I Levy-Hollister syndrome Familial scaphocephaly syndrome, McGillivray type Saethre-Chotzen syndrome Beare-Stevenson cutis gyrata syndrome Neoplasm of stomach Pfeiffer syndrome
- Source Database
- ClinVar
- Description
- NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions
- ClinVar Allele ID
- 28307
- ClinVar RefSeq Alternation Syntax
- NM_001144917.2:c.939+2608G>A
- ClinVar RefSeq Alternation Syntax
- NR_073009.2:n.1468G>A
- ClinVar RefSeq Alternation Syntax
- NM_023029.2:c.765G>A
- ClinVar RefSeq Alternation Syntax
- NM_001144918.2:c.687G>A
- ClinVar RefSeq Alternation Syntax
- NM_001320658.2:c.1032G>A
- ClinVar RefSeq Alternation Syntax
- NM_000141.5:c.1032G>A
- ClinVar RefSeq Alternation Syntax
- NM_001144913.1:c.1087+1311G>A
- ClinVar RefSeq Alternation Syntax
- NM_001144919.2:c.820+1311G>A
- ClinVar RefSeq Alternation Syntax
- NM_001144915.2:c.765G>A
- ClinVar RefSeq Alternation Syntax
- NM_001144916.2:c.687G>A
- ClinVar RefSeq Alternation Syntax
- NM_001320654.2:c.348G>A
- ClinVar RefSeq Alternation Syntax
- NM_001144914.1:c.749-2052G>A
- ClinVar RefSeq Alternation Syntax
- NM_022970.4:c.1087+1311G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000762800
- ClinVar Disease
- Pfeiffer syndrome
- ClinVar Disease
- Acrocephalosyndactyly type I
- ClinVar Disease
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
- ClinVar Disease
- Saethre-Chotzen syndrome
- ClinVar Disease
- Jackson-Weiss syndrome
- ClinVar Disease
- Bent bone dysplasia syndrome 1
- ClinVar Disease
- Beare-Stevenson cutis gyrata syndrome
- ClinVar Disease
- Neoplasm of stomach
- ClinVar Disease
- Familial scaphocephaly syndrome, McGillivray type
- ClinVar Disease
- Levy-Hollister syndrome
- ClinVar Disease
- Crouzon syndrome
- Observed Origin Sample
- unknown
Drugs