NM_001184985.1:c.2971C>T

HGVS Expressions

  • NG_007984.3:g.120639C>T
  • NM_001184985.1:c.2971C>T
  • NP_001171914.1:p.Arg991Ter
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Genomic Location

chr12:813750

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

5168

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
201300.1.1Lebanon2PathogenicNeuropathy, Hereditary Sensory and Autonomic, Type IIRoddier et al, 2005
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