NM_001105206.3:c.3161G>A

HGVS Expressions

  • NG_008209.1:g.120386G>A
  • NM_001105206.3:c.3161G>A
  • NP_001098676.2:p.Gly1054Asp

Associated Genes

Laminin, Alpha-4
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Genomic Location

chr6:112139241

Clinvar Clinical Significance

Likely Benign

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

Clinvar

518370

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615248.1Lebanon1Likely BenignRefaat et al. 2019 Similarly affected brother
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