Annotation Detail
Information
- Associated Genes
- FGFR1
- Associated Variants
-
FGFR1 p.Pro250Arg (p.P250R)
(
ENST00000326324.10,
ENST00000335922.9,
ENST00000341462.9,
ENST00000356207.9,
ENST00000397091.9,
ENST00000397103.5,
ENST00000397108.8,
ENST00000397113.6,
ENST00000425967.8,
ENST00000447712.7,
ENST00000532791.5,
ENST00000683765.1,
ENST00000683815.1,
ENST00000684654.1,
ENST00000703405.1 )
FGFR1 p.Pro250Arg (p.P250R) ( ENST00000326324.10, ENST00000335922.9, ENST00000341462.9, ENST00000356207.9, ENST00000397091.9, ENST00000397103.5, ENST00000397108.8, ENST00000397113.6, ENST00000425967.8, ENST00000447712.7, ENST00000532791.5, ENST00000683765.1, ENST00000683815.1, ENST00000684654.1, ENST00000703405.1 ) - Associated Disease
- Pfeiffer syndrome hypogonadotropic hypogonadism 2 with or without anosmia
- Source Database
- ClinVar
- Description
- NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) AND multiple conditions
- ClinVar Allele ID
- 31318
- ClinVar RefSeq Alternation Syntax
- NM_001354367.2:c.749C>G
- ClinVar RefSeq Alternation Syntax
- NM_001174064.2:c.731C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354370.2:c.482C>G
- ClinVar RefSeq Alternation Syntax
- NM_023106.3:c.482C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354368.2:c.482C>G
- ClinVar RefSeq Alternation Syntax
- NM_001174065.2:c.749C>G
- ClinVar RefSeq Alternation Syntax
- NM_015850.4:c.749C>G
- ClinVar RefSeq Alternation Syntax
- NM_001174067.2:c.848C>G
- ClinVar RefSeq Alternation Syntax
- NM_023105.3:c.488C>G
- ClinVar RefSeq Alternation Syntax
- NM_023110.3:c.755C>G
- ClinVar RefSeq Alternation Syntax
- NM_001174066.2:c.488C>G
- ClinVar RefSeq Alternation Syntax
- NM_001174063.2:c.755C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354369.2:c.749C>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-03-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000644520
- ClinVar Disease
- Pfeiffer syndrome
- ClinVar Disease
- Hypogonadotropic hypogonadism 2 with or without anosmia
- Observed Origin Sample
- germline
Drugs