NM_177400.3:c.608G>A

HGVS Expressions

  • NM_177400.3:c.608G>A
  • NP_796374.2:p.Trp203Ter
  • NC_000010.11:g.132785142C>T

Associated Genes

NK6 Homeobox 2
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

627619

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617560.6.1United Arab Emirates2Likely PathogenicSpastic Ataxia 8, Autosomal Recessive, with Hypomyelinating LeukodystrophyBaldi et al. 2018 Proband from 'family 6' in the publicati...
617560.6.2United Arab Emirates2Likely PathogenicSpastic Ataxia 8, Autosomal Recessive, with Hypomyelinating LeukodystrophyBaldi et al. 2018 Twin sister of 617560.6.1
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