NM_001625.4:c.545C>A

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  2. NM_001625.4:c.545C>A

HGVS Expressions

  • NG_016269.1:g.28536C>A
  • NM_001625.4:c.545C>A
  • NP_001616.1:p.Ala182Asp

Associated Genes

Adenylate Kinase 2
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Genomic Location

chr1:33013356

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

559947967

Clinvar

190980

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
267500.G.1.2Saudi Arabia26NAPathogenicReticular DysgenesiaChou et al, 2020 Patients 'P3-P15' from families 3-8 in t...
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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.