Annotation Detail
Information
- Associated Genes
- MEFV LOC126862264
- Associated Variants
-
MEFV p.Lys695Arg (p.K695R)
(
ENST00000339854.8,
ENST00000541159.5,
ENST00000536379.5,
ENST00000219596.6 )
MEFV p.Lys695Arg (p.K695R) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- Heart, malformation of
- Source Database
- ClinVar
- Description
- NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) AND multiple conditions
- ClinVar Allele ID
- 17586
- ClinVar RefSeq Alternation Syntax
- NM_001198536.2:c.*288A>G
- ClinVar RefSeq Alternation Syntax
- NM_000243.3:c.2084A>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2016-09-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001270033
- ClinVar Disease
- Heart, malformation of
- Observed Origin Sample
- germline
Drugs