NM_001348944.2:c.2677T>G

HGVS Expressions

  • NM_001348944.2:c.2677T>G
  • NP_001335873.1:p.Ser893Ala
  • NC_000007.14:g.87531302A>C
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Clinvar Clinical Significance

Benign

Variant Type

Substitution

dbSNP

2032582

Clinvar

166622

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
171050.G.1United Arab Emirates0.611Al-Mahayri et al. 2020 100 (52 females, 48 males) normal health...
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