NAA10, N-alpha-acetyltransferase 10, NatA catalytic subunit, 8260
N. diseases: 199; N. variants: 15
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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G | 0.840 | CausalMutation | CLINVAR | |||||||||
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G | 0.810 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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0.840 | GeneticVariation | UNIPROT | A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly. | 31174490 | 2019 | |||||||
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0.810 | GeneticVariation | UNIPROT | A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly. | 31174490 | 2019 | |||||||
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0.840 | GeneticVariation | BEFREE | A single hypomorphic missense variant p.(Ser37Pro) was previously associated with Ogden syndrome in eight affected males from two different families. | 25099252 | 2015 | |||||||
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0.840 | GeneticVariation | UNIPROT | Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects. | 25489052 | 2015 | |||||||
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0.810 | GeneticVariation | UNIPROT | Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects. | 25489052 | 2015 | |||||||
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0.840 | GeneticVariation | BEFREE | In conclusion, the data presented here further support the disruptive nature of the S37P/Ogden mutation and identify affected cellular processes potentially contributing to the severe phenotype seen in Ogden syndrome. | 27668839 | 2017 | |||||||
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G | 0.700 | GeneticVariation | CLINVAR | Lessons learned from additional research analyses of unsolved clinical exome cases. | 28327206 | 2017 | ||||||
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0.840 | GeneticVariation | BEFREE | NAA10-related syndrome is an X-linked condition with a broad spectrum of findings ranging from a severe phenotype in males with p.Ser37Pro in NAA10, originally described as Ogden syndrome, to the milder NAA10-related intellectual disability found with different variants in both males and females. | 30054457 | 2018 |