NM_020964.3:c.1249C>T

HGVS Expressions

  • NG_042838.1:g.19937C>T
  • NM_020964.3:c.1249C>T
  • NP_066015.2:p.Arg417Ter
  • NC_000018.10:g.45952403G>A
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

626232

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
242840.5United Arab Emirates2PathogenicVici SyndromeByrne et al. 2016
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