NM_000141.5:c.870G>C

HGVS Expressions

  • NG_012449.1:g.83411G>C
  • NM_000141.5:c.870G>C
  • NP_000132.3:p.Trp290Cys
  • NC_000010.11:g.121520048C>G
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Clinical Significance

Likely Pathogenic,Pathogenic

Variant Type

Substitution

Clinvar

13281

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
123790.1Saudi Arabia1NAPathogenicBeare-Stevenson Cutis Gyrata SyndromeMaddirevula et al. 2018 De novo mutation
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