Annotation Detail
Information
- Associated Genes
- MEFV
- Associated Variants
-
MEFV p.Thr267Ile (p.T267I)
(
ENST00000339854.8,
ENST00000541159.5,
ENST00000536379.5,
ENST00000219596.6 )
MEFV p.Thr267Ile (p.T267I) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- Familial Mediterranean fever, autosomal dominant
- Source Database
- ClinVar
- Description
- NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) AND Familial Mediterranean fever, autosomal dominant
- ClinVar Allele ID
- 17583
- ClinVar RefSeq Alternation Syntax
- NM_000243.3:c.800C>T
- ClinVar RefSeq Alternation Syntax
- NM_001198536.2:c.277+2043C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-06-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001535446
- ClinVar Disease
- Familial Mediterranean fever, autosomal dominant
- Observed Origin Sample
- unknown
Drugs