NM_000260.4:c.721C>T

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  2. NM_000260.4:c.721C>T

HGVS Expressions

  • NG_009086.2:g.33745C>T
  • NM_000260.4:c.721C>T
  • NP_000251.3:p.Arg241Cys
  • NC_000011.10:g.77156990C>T

Associated Genes

Myosin VIIA
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

782166819

Clinvar

438180

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
276900.6.1United Arab Emirates2PathogenicUsher Syndrome Type IKhan. 2024 Patient from 'family 1' in the publicati...
276900.6.2United Arab Emirates2PathogenicUsher Syndrome Type IKhan. 2024 Sister of 276900.6.1
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Contributors

  • Asha Deepthi: 20.08.2024

Edit History

  • Asha Deepthi: 20.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.