AVIL Chromosome 12
Advillin
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What This Gene Does
The protein encoded by this gene is a member of the gelsolin/villin family of actin regulatory proteins. This protein has structural similarity to villin. It binds actin and may play a role in the development of neuronal cells that form ganglia. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Gelsolin/villins
Locus Type
gene with protein product
Location
12q14.1
Ensembl
ENSG00000135407
Associated Conditions (5)
Nephrotic syndrome
type 21
Steroid-resistant nephrotic syndrome
Uterine corpus endometrial carcinoma
Gastric cancer
Key Variants
RS138047529
Likely pathogenic
Nephrotic syndrome, type 21, Steroid-resistant nephrotic syndrome
Health Risk
RS138728046
Likely pathogenic
Nephrotic syndrome, type 21, Uterine corpus endometrial carcinoma
Health Risk
RS1334894971
Pathogenic
Steroid-resistant nephrotic syndrome, Nephrotic syndrome, type 21
Health Risk
RS763782471
Pathogenic
Steroid-resistant nephrotic syndrome, Nephrotic syndrome, type 21
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138047529 | Health Risk | Likely pathogenic | Nephrotic syndrome, type 21, Steroid-resistant nephrotic syndrome |
| RS138728046 | Health Risk | Likely pathogenic | Nephrotic syndrome, type 21, Uterine corpus endometrial carcinoma |
| RS1334894971 | Health Risk | Pathogenic | Steroid-resistant nephrotic syndrome, Nephrotic syndrome, type 21 |
| RS763782471 | Health Risk | Pathogenic | Steroid-resistant nephrotic syndrome, Nephrotic syndrome, type 21 |