NM_000441.2:c.1488C>T

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  2. NM_000441.2:c.1488C>T

HGVS Expressions

  • NG_008489.1:g.40349C>T
  • NM_000441.2:c.1488C>T
  • NP_000432.1:p.Leu496=
  • NC_000007.14:g.107695983C>T

Associated Genes

Solute Carrier Family 26, Member 4
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Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

77407094

Clinvar

43509

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605646.GUnited Arab Emirates1BenignChouchen et al. 2021 Heterozygous variants in at least 22 ind...
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Contributors

  • Sami Bizzari: 27.01.2022

Edit History

  • Sami Bizzari: 27.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.