NM_005050.4:c.362G>A

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  2. NM_005050.4:c.362G>A

HGVS Expressions

  • NG_032875.1:g.10072G>A
  • NM_005050.4:c.362G>A
  • NP_005041.1:p.Arg121His
  • NC_000014.9:g.74297993C>T

Associated Genes

ATP-Binding Cassette, Subfamily D, Member 4
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

201744101

Clinvar

1432158

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614857.1Lebanon1Likely PathogenicMethylmalonic Aciduria and Homocystinuria, cbIJ TypeNair et al. 2018
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Contributors

  • Pratibha Nair: 16.04.2020

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 16.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.