NM_172390.3:c.704G>A

HGVS Expressions

  • NG_029226.1:g.20208G>A
  • NM_172390.3:c.704G>A
  • NP_765975.1:p.Arg222Gln
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Genomic Location

chr18:79410979

Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
601631.1.1Lebanon1Likely PathogenicHeterotaxy, Visceral, 1, X-LinkedKhalil et al, 2017
601631.1.3Lebanon1Likely PathogenicHeterotaxy, Visceral, 1, X-LinkedKhalil et al, 2017 Sibling of 601631.1.1
601631.1.4Lebanon1Likely PathogenicKhalil et al, 2017 Father of 601631.1.1
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