NM_014236.4:c.569-3T>G

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  2. NM_014236.4:c.569-3T>G

HGVS Expressions

  • NG_008240.2:g.29118T>G
  • NM_014236.4:c.569-3T>G
  • NP_055051.1:p.?
  • NC_000001.11:g.231265290T>G

Associated Genes

Glyceronephosphate O-Acyltransferase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

745869264

Clinvar

1252036

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
222765.1Saudi Arabia2NAUncertain SignificanceRhizomelic Chondrodysplasia Punctata, Type 2Maddirevula et al. 2018
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Contributors

  • Asha Deepthi: 05.12.2021

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 22.02.2022
  • Asha Deepthi: 05.12.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.