NM_000441.2:c.1150G>C

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  2. NM_000441.2:c.1150G>C

HGVS Expressions

  • NG_008489.1:g.34490G>C
  • NM_000441.2:c.1150G>C
  • NP_000432.1:p.Glu384Gln
  • NC_000007.14:g.107690124G>C

Associated Genes

Solute Carrier Family 26, Member 4
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
274600.3.1United Arab Emirates2Likely PathogenicPendred SyndromeChouchen et al. 2021 Proband
274600.3.2United Arab Emirates2Likely PathogenicPendred SyndromeChouchen et al. 2021 Sibling of proband
274600.3.3United Arab Emirates2Likely PathogenicPendred SyndromeChouchen et al. 2021 Sibling of proband
274600.3.4United Arab Emirates1Chouchen et al. 2021 Mother of proband
274600.3.5United Arab Emirates1Chouchen et al. 2021 Father of proband
600791.4United Arab Emirates2Likely PathogenicDeafness, Autosomal Recessive 4, with Enlarged Vestibular AqueductElsayed O and Al-Shamsi A. 2022
274600.3.GUnited Arab Emirates1Chouchen et al. 2021 Five siblings heterozygous for the varia...
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Contributors

  • Sami Bizzari: 26.01.2022

Edit History

  • Sami Bizzari: 19.10.2023
  • Rahila Mir: 07.02.2022
  • Sami Bizzari: 26.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.