NM_001081.3:c.434G>A

HGVS Expressions

  • NG_008967.1:g.11175G>A
  • NM_001081.3:c.434G>A
  • NP_001072.2:p.Gly145Glu

Associated Genes

Cubilin
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Genomic Location

chr10:17123643

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

56340

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261100.1.1Saudi Arabia2PathogenicMegaloblastic Anemia 1Tanner et al. 2004
261100.1.2Saudi Arabia2PathogenicMegaloblastic Anemia 1Tanner et al. 2004 Brother of 261100.1.1
261100.1.3Saudi Arabia2PathogenicMegaloblastic Anemia 1Tanner et al. 2004 First cousin of 261100.1.1
261100.1.4Saudi Arabia2PathogenicMegaloblastic Anemia 1Tanner et al. 2004 First cousin of 261100.1.1, Brother of 2...
261100.1.5Saudi Arabia2PathogenicMegaloblastic Anemia 1Tanner et al. 2004 Relative of 261100.1.1
261100.1.6Saudi Arabia2PathogenicMegaloblastic Anemia 1Tanner et al. 2004 Relative of 261100.1.1, Brother of 26110...
261100.1.7Saudi Arabia2PathogenicMegaloblastic Anemia 1Tanner et al. 2004 Relative of 261100.1.1, Brother of 26110...
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