NM_000352.6:c.4432G>A

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  2. NM_000352.6:c.4432G>A

HGVS Expressions

  • NG_008867.1:g.87524G>A
  • NM_000352.6:c.4432G>A
  • NP_000343.2:p.Gly1478Arg
  • NC_000011.10:g.17394379C>T

Associated Genes

ATP-Binding Cassette, Subfamily C, Member 8
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

73389646

Clinvar

434045

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600509.1Qatar10.004PathogenicDevadoss Gandhi et al. 2024
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Contributors

  • Sayeeda Hana: 13.11.2024

Edit History

  • Sayeeda Hana: 13.11.2024
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.