ACTG1 Chromosome 17
Actin gamma 1
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What This Gene Does
Actins are highly conserved proteins that are involved in various types of cell motility and in maintenance of the cytoskeleton. Three main groups of actin isoforms have been identified in vertebrate animals: alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. Actin gamma 1, encoded by this gene, is a cytoplasmic actin found in all cell types. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss and also with Baraitser-Winter syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
Actins
Locus Type
gene with protein product
Location
17q25.3
Ensembl
ENSG00000184009
Associated Conditions (14)
Autosomal dominant nonsyndromic hearing loss 20
Baraitser-winter syndrome 2
ACTG1-related disorder
Inborn genetic diseases
Hearing impairment
Rare genetic deafness
Monogenic hearing loss
Baraitser-Winter syndrome
Nonsyndromic genetic hearing loss
Microcephaly
Congenital anomaly of kidney and urinary tract
Lissencephaly
Neurodevelopmental delay
See cases
Key Variants
RS11549191
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20
Health Risk
RS11549196
Conflicting classifications of pathogenicity
Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
Health Risk
RS1367861495
Conflicting classifications of pathogenicity
Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
Health Risk
RS138240892
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20
Health Risk
RS143028649
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20
Health Risk
RS145303691
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, ACTG1-related disorder
Health Risk
RS145574149
Conflicting classifications of pathogenicity
Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20, Inborn genetic diseases
Health Risk
RS1555666371
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20
Health Risk
RS1555666709
Conflicting classifications of pathogenicity
Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
Health Risk
RS1568060200
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 20, Autosomal dominant nonsyndromic hearing loss 20
Health Risk
RS1598548614
Conflicting classifications of pathogenicity
Baraitser-winter syndrome 2, ACTG1-related disorder, Autosomal dominant nonsyndromic hearing loss 20
Health Risk
RS200070347
Conflicting classifications of pathogenicity
Health Risk
All Variants (94)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1598548256 | Health Risk | Likely pathogenic | Baraitser-winter syndrome 2, Baraitser-winter syndrome 2 |
| RS2031770749 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 20, Autosomal dominant nonsyndromic hearing loss 20 |
| RS2031775804 | Health Risk | Likely pathogenic | Baraitser-winter syndrome 2, Baraitser-winter syndrome 2 |
| RS2143775617 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 20, Autosomal dominant nonsyndromic hearing loss 20 |
| RS2143775813 | Health Risk | Likely pathogenic | — |
| RS2143776740 | Health Risk | Likely pathogenic | — |
| RS2143779081 | Health Risk | Likely pathogenic | Baraitser-winter syndrome 2, Baraitser-winter syndrome 2 |
| RS2143779222 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 20, Autosomal dominant nonsyndromic hearing loss 20 |
| RS2143779274 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 20, Autosomal dominant nonsyndromic hearing loss 20 |
| RS2544388195 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20 |
| RS2544389679 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20 |
| RS2544389713 | Health Risk | Likely pathogenic | — |
| RS2544392140 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20 |
| RS281875327 | Health Risk | Likely pathogenic | Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20, Baraitser-Winter syndrome |
| RS28999111 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 20, Autosomal dominant nonsyndromic hearing loss 20 |
| RS371967814 | Health Risk | Likely pathogenic | — |
| RS587780275 | Health Risk | Likely pathogenic | Baraitser-winter syndrome 2, Baraitser-winter syndrome 2 |
| RS781953399 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS782124831 | Health Risk | Likely pathogenic | — |
| RS886041280 | Health Risk | Likely pathogenic | — |
| RS886041756 | Health Risk | Likely pathogenic | — |
| RS886041873 | Health Risk | Likely pathogenic | — |
| RS104894544 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 20, Nonsyndromic genetic hearing loss, Autosomal dominant nonsyndromic hearing loss 20 |
| RS104894545 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20 |
| RS104894546 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 20, Autosomal dominant nonsyndromic hearing loss 20 |
| RS104894547 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 20, Autosomal dominant nonsyndromic hearing loss 20 |
| RS1192977984 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, Baraitser-winter syndrome 2 |
| RS1555666624 | Health Risk | Pathogenic | — |
| RS1568062529 | Health Risk | Pathogenic | — |
| RS2031759596 | Health Risk | Pathogenic | Baraitser-winter syndrome 2, Microcephaly, Baraitser-winter syndrome 2 |
| RS2143783696 | Health Risk | Pathogenic | Baraitser-winter syndrome 2, Baraitser-winter syndrome 2 |
| RS267606630 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 20, Autosomal dominant nonsyndromic hearing loss 20 |
| RS281875326 | Health Risk | Pathogenic | Baraitser-winter syndrome 2, Congenital anomaly of kidney and urinary tract, Inborn genetic diseases |
| RS281875329 | Health Risk | Pathogenic | Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20, Lissencephaly |
| RS781945750 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20 |
| RS11549190 | Health Risk | Pathogenic/Likely pathogenic | Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2 |
| RS1362994447 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20 |
| RS1555666392 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Baraitser-winter syndrome 2, Neurodevelopmental delay |
| RS1555666715 | Health Risk | Pathogenic/Likely pathogenic | Rare genetic deafness, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20 |
| RS1598551290 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20 |
| RS2544392281 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20 |
| RS267606631 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 20, Rare genetic deafness, Hearing impairment |
| RS281875325 | Health Risk | Pathogenic/Likely pathogenic | Baraitser-winter syndrome 2, See cases, Baraitser-winter syndrome 2 |
| RS281875328 | Health Risk | Pathogenic/Likely pathogenic | Baraitser-winter syndrome 2, Lissencephaly, Autosomal dominant nonsyndromic hearing loss 20 |