Annotation Detail
Information
- Associated Genes
- FGFR2
- Associated Variants
-
FGFR2 p.Lys527Glu (p.K527E)
(
ENST00000457416.7,
ENST00000356226.8,
ENST00000684153.1,
ENST00000369061.8,
ENST00000346997.6,
ENST00000682772.1,
ENST00000357555.9,
ENST00000683211.1,
ENST00000360144.7,
ENST00000369059.5,
ENST00000358487.10,
ENST00000369060.8,
ENST00000351936.11,
ENST00000369056.5,
ENST00000638709.2,
ENST00000478859.5,
ENST00000613048.4,
ENST00000682550.1 )
FGFR2 p.Lys527Glu (p.K527E) ( 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
- Pfeiffer syndrome
- Source Database
- ClinVar
- Description
- NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu) AND Pfeiffer syndrome
- ClinVar Allele ID
- 28334
- ClinVar RefSeq Alternation Syntax
- NR_073009.2:n.2012A>G
- ClinVar RefSeq Alternation Syntax
- NM_001320658.2:c.1570A>G
- ClinVar RefSeq Alternation Syntax
- NM_022970.4:c.1579A>G
- ClinVar RefSeq Alternation Syntax
- NM_000141.5:c.1576A>G
- ClinVar RefSeq Alternation Syntax
- NM_001144916.2:c.1231A>G
- ClinVar RefSeq Alternation Syntax
- NM_001320654.2:c.892A>G
- ClinVar RefSeq Alternation Syntax
- NM_001144917.2:c.1228A>G
- ClinVar RefSeq Alternation Syntax
- NM_022969.1:c.1579A>G
- ClinVar RefSeq Alternation Syntax
- NM_001144918.2:c.1225A>G
- ClinVar RefSeq Alternation Syntax
- NM_001144913.1:c.1579A>G
- ClinVar RefSeq Alternation Syntax
- NM_001144915.2:c.1309A>G
- ClinVar RefSeq Alternation Syntax
- NM_001144914.1:c.1240A>G
- ClinVar RefSeq Alternation Syntax
- NM_001144919.2:c.1312A>G
- ClinVar RefSeq Alternation Syntax
- NM_023029.2:c.1309A>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2024-03-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003988821
- ClinVar Disease
- Pfeiffer syndrome
- Observed Origin Sample
- germline
Drugs