Database of Pathogenic Variants
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Gene Detail
Gene Symbol
ACTG1
Gene:71
HGNC:144
Gene Name
actin gamma 1
Chromosome
17
Cytogenetic Band
q25.3
RefSeq Accession
NM_001614
Associated Diseases
Baraitser-Winter syndrome 1
Associated Variants
NM_001614.4:c.994C>T