NM_001288705.3:c.1905G>T

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HGVS Expressions

  • NG_012303.2:g.57447G>T
  • NM_001288705.3:c.1905G>T
  • NP_001275634.1:p.Lys635Asn
  • NC_000005.10:g.150060926C>A

Associated Genes

Colony-Stimulating Factor 1 Receptor
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
221820.1Saudi Arabia1Likely PathogenicLeukoencephalopathy, Hereditary Diffuse, with Spheroids 1Monies et al. 2017
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Contributors

  • Asha Deepthi: 07.01.2025

Edit History

  • Asha Deepthi: 07.01.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.