Kurdistan NM_000517.6:c.142G>T

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  2. Kurdistan NM_000517.6:c.142G>T

HGVS Expressions

  • NG_059271.1:g.5325G>T
  • NM_000517.6:c.142G>T
  • NP_000508.1:p.Asp48Tyr

Associated Genes

Hemoglobin--Alpha Locus 2
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Genomic Location

chr16:173171

Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

281864834

Clinvar

15648

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613985.27.3Iraq1Likely BenignGiordano et al. 1994 Brother of 613985.27.1
613985.27.4Iraq1Likely BenignGiordano et al. 1994 Brother of 613985.27.1
613985.27.5Iraq1Likely BenignGiordano et al. 1994 Mother of 613985.27.1
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Contributors

  • Sayeeda Hana: 29.11.2020

Edit History

  • Sayeeda Hana: 24.03.2021
  • Sayeeda Hana: 29.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.