Variant Info - hg38
Nonsense: 22-36286729-G-A
Gene: MYH9
pLI: 1
Haploinsufficiency: None
cHGVS: NM_002473.6:c.5050C>T
pHGVS: NP_002464.1:p.Gln1684Ter
Exon: 35/41
Intron: -/40
PVS1 Flowchart
Disease Mechanism
Gene | Disease | Inheritance | Clinical Validity | Disease Mechanism Consideration | Adjusted Strength |
---|---|---|---|---|---|
MYH9 | macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | AD | Definitive | No Decrease | VeryStrong |