Montgomery NM_000517.6:c.146T>G

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  2. Montgomery NM_000517.6:c.146T>G

HGVS Expressions

  • NG_059271.1:g.5329T>G
  • NM_000517.6:c.146T>G
  • NP_000508.1:p.Leu49Arg

Associated Genes

Hemoglobin--Alpha Locus 2
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Genomic Location

chr16:173175

Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

41392146

Clinvar

15637

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
141850.1.1Tunisia1Uncertain SignificanceMrad et al. 1988 Propositus
141850.1.2Tunisia1Uncertain SignificanceMrad et al. 1988 Father of 141850.1.1
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Contributors

  • Sayeeda Hana: 29.11.2020

Edit History

  • Sayeeda Hana: 13.12.2020
  • Sayeeda Hana: 30.11.2020
  • Sayeeda Hana: 29.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.