NM_001164317.2:c.488A>C

HGVS Expressions

  • NG_012801.1:g.73842A>T
  • NM_001164317.2:c.488A>C
  • NP_001157789.1:p.Gln163Pro
  • NC_000003.12:g.58077241A>C

Associated Genes

Filamin B
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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
150250.1Saudi Arabia1NAUncertain SignificanceLarsen SyndromeMaddirevula et al. 2018
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