NM_000579.4:c.164T>A

HGVS Expressions

  • NG_012637.1:g.7925T>A
  • NM_000579.4:c.164T>A
  • NP_000570.1:p.Leu55Gln
  • NC_000003.12:g.46373066T>A
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

1799863

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601373.3United Arab Emirates10.00025Uncertain SignificanceAl-Jaberi et al. 2013 Healthy adult carrier. In this study, on...
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