NM_000260.4:c.1541G>C

HGVS Expressions

  • NG_009086.2:g.39072G>C
  • NM_000260.4:c.1541G>C
  • NP_000251.3:p.Ser514Thr
  • NC_000011.10:g.77162317G>C

Associated Genes

Myosin VIIA
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

1420150

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600060.4United Arab Emirates1Uncertain SignificanceDeafness, Autosomal Recessive 2Tlili et al. 2024
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