NM_001145095.1:c.677-7C>T

HGVS Expressions

  • NM_001145095.1:c.677-7C>T
  • NP_001138567.1:p.?
  • NC_000008.11:g.132079973G>A
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CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
220290.G.11.1United Arab Emirates6Likely BenignMahfood et al. 2021 3 siblings (2 male, 1 female) with a mol...
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