NM_001287.6:c.739-18G>A

HGVS Expressions

  • NG_007567.1:g.22730G>A
  • NM_001287.6:c.739-18G>A
  • NC_000016.10:g.1457355C>T

Associated Genes

Chloride Channel 7
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

1029299

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611490.1.1Saudi Arabia2NAUncertain SignificanceOsteopetrosis, Autosomal Recessive 4Maddirevula et al. 2018
611490.1.2Saudi Arabia2NAUncertain SignificanceOsteopetrosis, Autosomal Recessive 4Maddirevula et al. 2018 Relative of 611490.1.1
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