NM_000782.4:c.733-149=

HGVS Expressions

  • NG_008334.1:g.14266=
  • NM_000782.4:c.733-149=
  • NP_000773.2:p.?
  • NC_000020.11:g.54164712=
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CTGA Clinical Significance

Protective

Variant Type

Reference Allele

dbSNP

2762939

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
264700.G.1.1United Arab Emirates1260.47ProtectiveVitamin D Hydroxylation-Deficient Rickets, Type 1AAl Anouti et al. 2017 Cohort involving 162 total healthy Emira...
264700.G.1.2United Arab Emirates340.63Al Anouti et al. 2017 Control group with sufficient Vitamin D ...
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