NM_001844.5:c.3023G>T

HGVS Expressions

  • NG_008072.1:g.31405G>T
  • NM_001844.5:c.3023G>T
  • NP_001835.3:p.Gly1008Val
  • NC_000012.12:g.47978098C>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

374042

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
108300.2Saudi Arabia1NAPathogenicStickler Syndrome, Type IMaddirevula et al. 2018 De novo mutation
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