NM_001625.4:c.298G>A

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  2. NM_001625.4:c.298G>A

HGVS Expressions

  • NG_016269.1:g.20267G>A
  • NM_001625.4:c.298G>A
  • NP_001616.1:p.Gly100Ser

Associated Genes

Adenylate Kinase 2
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Genomic Location

chr1:33021625

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1557622302

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
267500.G.1.1Lebanon4NAPathogenicReticular DysgenesiaChou et al, 2020 Patients 'P1' and 'P2' from families 1 a...
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Contributors

  • Asha Deepthi: 22.10.2020

Edit History

  • Asha Deepthi: 22.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.