NM_000785.4:c.1137-29=

HGVS Expressions

  • NG_007076.1:g.7989=
  • NM_000785.4:c.1137-29=
  • NP_000776.1:p.?
  • NC_000012.12:g.57764205=
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CTGA Clinical Significance

Risk factor

Variant Type

Reference Allele

dbSNP

4646536

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 Emirates1950.53Risk factorVitamin D Hydroxylation-Deficient Rickets, Type 1AAl Anouti et al. 2017 Cohort involving 162 total healthy Emira...
264700.G.1.2United Arab Emirates470.74Al Anouti et al. 2017 Control group with sufficient Vitamin D ...
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