NM_002529.3:c.2205+1G>A

HGVS Expressions

  • NG_007493.1:g.69409G>A
  • NM_002529.3:c.2205+1G>A
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Genomic Location

chr1:156880158

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
256800.1Lebanon2PathogenicInsensitivity to Pain, Congenital, with AnhidrosisNair et al. 2018
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