NM_001002235.2:c.1177C>T

HGVS Expressions

  • NG_008290.1:g.17164C>T
  • NM_001002235.2:c.1177C>T
  • NP_001002235.1:p.Pro393Ser
  • NC_000014.9:g.94378529G>A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

Variant Type

Substitution

Clinvar

289135

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
107400.1United Arab Emirates1Alsamri et al. 2021 Article remark: Individual screened for ...
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