NM_005051.3:c.1058G>T

HGVS Expressions

  • NG_042312.1:g.9834G>T
  • NM_005051.3:c.1058G>T
  • NP_005042.1:p.Gly353Val
  • NC_000003.12:g.49100296C>A
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Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

828125

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
615760.1United Arab Emirates2Likely PathogenicMicrocephaly, Progressive, with Seizures and Cerebral and Cerebellar AtrophyAlabdullatif et al. 2017
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