NM_006623.4:c.418G>A

HGVS Expressions

  • NG_009188.1:g.20215G>A
  • NM_006623.4:c.418G>A
  • NP_006614.2:p.Gly140Arg
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Genomic Location

chr1:119727010

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

139534

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
256520.1Saudi Arabia2PathogenicNeu-Laxova Syndrome 1El-Hattab et al. 2016
256520.3.1Saudi Arabia2PathogenicNeu-Laxova Syndrome 1Shaheen et al, 2014 Index patient
256520.3.2Saudi Arabia2PathogenicNeu-Laxova Syndrome 1Shaheen et al, 2014 Sister of 256520.3.2
256520.4Saudi Arabia2PathogenicNeu-Laxova Syndrome 1Shaheen et al, 2014
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