NM_004168.4:c.321C>G

HGVS Expressions

  • NG_012339.1:g.12187C>G
  • NM_004168.4:c.321C>G
  • NP_004159.2:p.Ile107Met
  • NC_000005.10:g.225427C>G
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

Clinvar

972483

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
312170.1United Arab Emirates1Likely BenignAl-Shamsi et al. 2016; Saleh et al. 2021
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