NM_001277115.1:c.13010G>A

HGVS Expressions

  • NG_012886.2:g.356746G>A
  • NM_001277115.1:c.13010G>A
  • NP_001264044.1:p.Ser4337Asn
  • NC_000007.14:g.21894960G>A
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

Clinvar

835959

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611884.3United Arab Emirates1Likely BenignAlsamri et al. 2021
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