Variant Info - hg38
Frameshift: 22-36282742-TC-T
Gene: MYH9
pLI: 1
Haploinsufficiency: None
cHGVS: NM_002473.6:c.5808del
pHGVS: NP_002464.1:p.Gly1938AlafsTer10
Exon: 41/41
Intron: -/40
PVS1 Flowchart
#1 Neither mutational hotspot nor functional domain is found.#2 No LOF variant is found or the LOF variant dosen't exist in gnomAD.
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 | Moderate |