NM_014236.4:c.487C>T

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  2. NM_014236.4:c.487C>T

HGVS Expressions

  • NG_008240.2:g.26599C>T
  • NM_014236.4:c.487C>T
  • NP_055051.1:p.Arg163Ter
  • NC_000001.11:g.231262771C>T

Associated Genes

Glyceronephosphate O-Acyltransferase
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

781300183

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
222765.2.1Saudi Arabia2PathogenicRhizomelic Chondrodysplasia Punctata, Type 2Patel et al. 2017
222765.2.2Saudi Arabia2PathogenicRhizomelic Chondrodysplasia Punctata, Type 2Patel et al. 2017 Relative of 222765.2.1
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Contributors

  • Sayeeda Hana: 26.03.2023

Edit History

  • Sayeeda Hana: 26.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.