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ACTG1 |
Gene Facts External Data Attribution
- HGNC Symbol
- ACTG1 (HGNC:144) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- actin gamma 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- ACTG, DFNA20, DFNA26
- Alias symbols
- No aliases found
- %HI
- 1.38(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.46(Read more about gnomAD pLI score)
- LOEUF
- 0.62(Read more about gnomAD LOEUF score)
- Cytoband
- 17q25.3
- Genomic Coordinates
-
GRCh37/hg19: chr17:79476997-79479825 NCBI Ensembl UCSC GRCh38/hg38: chr17:81509971-81512799 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001614.5 ENST00000573283.7 (Read more about MANE Select)
- Function
- Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. {ECO:0000305|PubMed:29581253}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-2764
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000017.10)
(NC_000017.11)
