Annotation Detail
Information
- Associated Genes
- FLT4
- Associated Variants
-
FLT4 p.His890Gln (p.H890Q)
(
ENST00000261937.11,
ENST00000393347.7,
ENST00000502649.5,
ENST00000619105.4 )
FLT4 p.His890Gln (p.H890Q) ( ENST00000261937.11, ENST00000393347.7, ENST00000502649.5, ENST00000619105.4 ) - Associated Disease
- Hereditary lymphedema type I
- Source Database
- ClinVar
- Description
- NM_182925.5(FLT4):c.2670C>G (p.His890Gln) AND Hereditary lymphedema type I
- ClinVar Allele ID
- 251898
- ClinVar RefSeq Alternation Syntax
- NM_182925.5:c.2670C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354989.2:c.2670C>G
- ClinVar RefSeq Alternation Syntax
- NM_002020.5:c.2670C>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-08-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001701923
- ClinVar Disease
- Hereditary lymphedema type I
- Observed Origin Sample
- germline
Drugs