NM_000478.6:c.977G>T

HGVS Expressions

  • NG_008940.1:g.69415G>T
  • NM_000478.6:c.977G>T
  • NP_000469.3:p.Gly326Val
  • NC_000001.11:g.21573779G>T
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
241500.5Saudi Arabia2NALikely PathogenicHypophosphatasia, InfantileMaddirevula et al. 2018
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