NM_173654.3:c.1130G>A

HGVS Expressions

  • NG_042829.1:g.40507G>A
  • NM_173654.3:c.1130G>A
  • NP_775925.1:p.Arg377Lys
  • NC_000003.12:g.68978388C>T
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615297.2.1Egypt2NAUncertain SignificanceAdams-Oliver Syndrome 4Maddirevula et al. 2018; Shaheen et al. 2013a
615297.2.2Egypt2NAUncertain SignificanceAdams-Oliver Syndrome 4Maddirevula et al. 2018; Shaheen et al. 2013a Relative of 615297.2.1
615297.2.3Egypt2NAUncertain SignificanceAdams-Oliver Syndrome 4Maddirevula et al. 2018; Shaheen et al. 2013a Relative of 615297.2.1
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