VARIANT: 1457v1
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Entry
1457v1 Variant
Name
CSNK2A1 mutation
Gene
CSNK2A1
casein kinase 2 alpha 1 [KO:
K03097
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
115440
Network
nt06512
Chromosome cohesion and segregation
nt06523
Epigenetic regulation by Polycomb complexes
Disease
H02460
Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies
Reference
PMID:
27048600
Authors
Okur V, Cho MT, Henderson L, Retterer K, Schneider M, Sattler S, Niyazov D, Azage M, Smith S, Picker J, Lincoln S, Tarnopolsky M, Brady L, Bjornsson HT, Applegate C, Dameron A, Willaert R, Baskin B, Juusola J, Chung WK
Title
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.
Journal
Hum Genet 135:699-705 (2016)
DOI:
10.1007/s00439-016-1661-y
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