NM_001369.2:c.12709G>T

HGVS Expressions

  • NG_013081.2:g.232794G>T
  • NM_001369.2:c.12709G>T
  • NP_001360.1:p.Val4237Phe
  • NC_000005.10:g.13716687C>A
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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

454739

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613990.1United Arab Emirates1Uncertain SignificanceAlsamri et al. 2020; Alsamri et al. 2021 Authors mention that variant 10352C>T ma...
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