Gene entry
ACTG1
actin gamma 1
- Chromosome
- 17
- Cytoband
- 17q25.3
- Variants (rsID)
- 3
ACTG1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q25.3). Its official name is “actin gamma 1”. The reference table lists 3 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs145303691Conflicting interpretationssingle nucleotide variant
- rs267606631Likely pathogenicsingle nucleotide variantAutosomal dominant nonsyndromic hearing loss 20|Rare genetic deafness|Hearing impairment
- rs281875326Pathogenicsingle nucleotide variantBaraitser-winter syndrome 2|Congenital anomaly of kidney and urinary tract
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.