NM_004230.4:c.985C>T

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HGVS Expressions

  • NG_046802.1:g.12887C>T
  • NM_004230.4:c.985C>T
  • NP_004221.3:p.Arg329Cys
  • NC_000019.10:g.10223921G>A

Associated Genes

Sphingosine-1-Phosphate Receptor 2
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

765378016

Clinvar

1301661

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610419.1United Arab Emirates1Uncertain SignificanceDeafness, Autosomal Recessive 68Tlili et al. 2024
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Contributors

  • Asha Deepthi: 04.09.2024

Edit History

  • Asha Deepthi: 04.09.2024
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.