NM_001105659.2:c.968C>A

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  2. NM_001105659.2:c.968C>A

HGVS Expressions

  • NM_001105659.2:c.968C>A
  • NP_001099129.1:p.Ser323Ter
  • NC_000001.11:g.74074690G>T

Associated Genes

Leucine Rich Repeats- and IQ Motif-Containing Protein 3
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1646182683

Clinvar

3358043

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611257.1.1Jordan2Likely PathogenicReuter et al. 2017
611257.1.2Jordan2Likely PathogenicReuter et al. 2017 Relative of 611257.1.1
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Contributors

  • Sayeeda Hana: 30.10.2024

Edit History

  • Sayeeda Hana: 30.10.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.