NM_013296.4:c.379C>T

HGVS Expressions

  • NG_028108.2:g.27243C>T
  • NM_013296.4:c.379C>T
  • NP_037428.3:p.Arg127Ter
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Genomic Location

Chr1:108897592

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1823

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604213.1.1Palestine2PathogenicChudley-McCullough SyndromeShahin et al. 2010; Walsh et al. 2010 Parents and 2 unaffected siblings were h...
604213.1.2Palestine2PathogenicChudley-McCullough SyndromeShahin et al. 2010; Walsh et al. 2010 Sibling of 604213.1.1
604213.1.3Palestine2PathogenicChudley-McCullough SyndromeShahin et al. 2010; Walsh et al. 2010 Sibling of 604213.1.1
604213.1.4Palestine2PathogenicChudley-McCullough SyndromeShahin et al. 2010; Walsh et al. 2010 First cousin of 604213.1.1. Parents and ...
604213.1.5Palestine2PathogenicChudley-McCullough SyndromeShahin et al. 2010; Walsh et al. 2010 First cousin of 604213.1.1
604213.1.6Palestine2PathogenicChudley-McCullough SyndromeShahin et al. 2010; Walsh et al. 2010 First cousin of 604213.1.1
604213.1.7Palestine2PathogenicChudley-McCullough SyndromeShahin et al. 2010; Walsh et al. 2010 First cousin once removed of 604213.1.1;...
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