NM_020964.3:c.6084G>A

HGVS Expressions

  • NG_042838.1:g.101632G>A
  • NM_020964.3:c.6084G>A
  • NP_066015.2:p.Trp2028Ter
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Genomic Location

chr18:45870708

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

623301

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
242840.6Oman2PathogenicVici SyndromeByrne et al. 2016 The patient has a similarly affected sib...
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