NM_198841.4:c.743C>T

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  2. NM_198841.4:c.743C>T

HGVS Expressions

  • NG_054727.2:g.10962C>T
  • NM_198841.4:c.743C>T
  • NP_942138.2:p.Thr248Ile
  • NC_000009.12:g.93447639G>A

Associated Genes

Family with Sequence Similarity 120A Opposite Strand
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

140119177

Clinvar

183343

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
FAM120AOS.1Saudi Arabia2Likely PathogenicFAM120AOS Associated DisorderAlazami et al. 2015
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Contributors

  • Pratibha Nair: 22.03.2023

Edit History

  • Pratibha Nair: 22.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.