Variant Info - hg19
Nonsense: X-82763936-A-T
Gene: POU3F4
pLI: 0.72
Haploinsufficiency: None
cHGVS: NM_000307.5:c.604A>T
pHGVS: NP_000298.3:p.Lys202Ter
Exon: 1/1
Intron: -/0
PVS1 Flowchart
#1 2 ClinVar pathogenic missense variant(s) and 1 benign missense variant(s) are found in POU-specific domain (amino acids 186-260 on protein P49335).#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 |
---|---|---|---|---|---|
POU3F4 | nonsyndromic genetic deafness | XL | Definitive | No Decrease | Strong |