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ACTG1

From SNPedia
is agene
is mentioned by
Full nameactin, gamma 1
EntrezGene71
PheGenI71
VariationViewer71
ClinVarACTG1
GeneCardsACTG1
dbSNP71
DiseasesACTG1
SADR71
HugeNav71
wikipediaACTG1
googleACTG1
gopubmedACTG1
EVSACTG1
HEFalMpACTG1
MyGene2ACTG1
23andMeACTG1
UniProtP63261
EnsemblENSG00000184009
OMIM102560
# SNPs21
 Max MagnitudeChromosome positionSummary
rs104894544081,511,913
rs104894545081,510,824
rs104894546081,511,199
rs104894547081,510,709
rs1057518086081,512,312
rs1057518673081,512,237
rs1057524703081,511,353
rs11549190081,511,586
rs267606630081,511,912
rs267606631081,511,269
rs281875325081,511,907
rs281875326081,511,526
rs281875327081,511,382
rs281875328081,511,230
rs281875329081,511,224
rs28187533081,511,626
rs28999111081,512,000
rs28999112081,511,078
rs587780275081,511,392
rs886041280081,512,135
rs886041756081,511,048


Associated with deafness; DFNA20/26


A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.[PMID 28493397] Note: the mutation described in this publication, p.Pro70Leu, is not known to correspond to any defined SNP (rs-id) at this time. news