Annotation Detail
Information
- Associated Genes
- FGFR1
- Associated Variants
-
FGFR1 p.Val102Ile (p.V102I)
(
ENST00000397108.8,
ENST00000341462.9,
ENST00000425967.8,
ENST00000397103.5,
ENST00000326324.10,
ENST00000397091.9,
ENST00000532791.5,
ENST00000397113.6,
ENST00000447712.7,
ENST00000335922.9,
ENST00000356207.9,
ENST00000683765.1,
ENST00000683815.1,
ENST00000684654.1,
ENST00000703405.1 )
FGFR1 p.Val102Ile (p.V102I) ( 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
- hypogonadotropic hypogonadism 2 with or without anosmia Pfeiffer syndrome
- Source Database
- ClinVar
- Description
- NM_023110.3(FGFR1):c.304G>A (p.Val102Ile) AND multiple conditions
- ClinVar Allele ID
- 513216
- ClinVar RefSeq Alternation Syntax
- NM_015850.4:c.304G>A
- ClinVar RefSeq Alternation Syntax
- NM_001174066.2:c.92-1301G>A
- ClinVar RefSeq Alternation Syntax
- NM_001174063.2:c.304G>A
- ClinVar RefSeq Alternation Syntax
- NM_001174065.2:c.304G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354368.2:c.92-1301G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354369.2:c.304G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354370.2:c.92-1301G>A
- ClinVar RefSeq Alternation Syntax
- NM_023106.3:c.92-1301G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354367.2:c.304G>A
- ClinVar RefSeq Alternation Syntax
- NM_023110.3:c.304G>A
- ClinVar RefSeq Alternation Syntax
- NM_001174064.2:c.280G>A
- ClinVar RefSeq Alternation Syntax
- NM_001174067.2:c.403G>A
- ClinVar RefSeq Alternation Syntax
- NM_023105.3:c.92-1301G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-10-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000644523
- ClinVar Disease
- Pfeiffer syndrome
- ClinVar Disease
- Hypogonadotropic hypogonadism 2 with or without anosmia
- Observed Origin Sample
- germline
Drugs