Variant Info
Nonsense: 22-36718542-G-A
Gene: MYH9
pLI: 1
Haploinsufficiency: na
cHGVS: NM_002473.5:c.637C>T
pHGVS: NP_002464.1:p.Gln213Ter
Exon: 6/41
Intron: -/40
PVS1 Flowchart
Nonsense or Frameshift
Predicted to undergo NMD
Exon is present in
biologically-relevant transcript(s)VeryStrong
Disease Mechanism
Gene | Disease | Inheritance | Clinical Validity | Disease Mechanism Consideration | Adjusted Strength |
---|---|---|---|---|---|
MYH9 | MYH-9 related disease | Autosomal Dominant | Definitive | No Decrease | VeryStrong |