NM_003829.5:c.1744C>G

HGVS Expressions

  • NG_042810.1:g.91339C>G
  • NM_003829.5:c.1744C>G
  • NP_003820.2:p.Leu582Val
  • NC_000009.12:g.13193226G>A
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615219.1United Arab Emirates1Likely PathogenicHydrocephalus, congenital, 2, with or without brain or eye anomalies Al-Shamsi et al. 2016 Compound heterozygous mutations
615219.2.1United Arab Emirates1Likely PathogenicHydrocephalus, congenital, 2, with or without brain or eye anomalies Al-Jezawi et al. 2018 Proband
615219.2.2United Arab Emirates1Al-Jezawi et al. 2018 Father of 615219.2.1
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