NM_005689.4:c.904C>G

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  2. NM_005689.4:c.904C>G

HGVS Expressions

  • NG_032110.1:g.7561C>G
  • NM_005689.4:c.904C>G
  • NP_005680.1:p.Leu302Val
  • NC_000002.12:g.219216430G>C

Associated Genes

ATP-Binding Cassette, Subfamily B, Member 6
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

113159519

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614497.1.1United Arab Emirates1Likely PathogenicMicrophthalmia, Isolated, With Coloboma 7Al-Shamsi et al. 2016
614497.1.2United Arab Emirates1Likely PathogenicMicrophthalmia, Isolated, With Coloboma 7Al-Shamsi et al. 2016 Father of 614497.1.1
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Contributors

  • Pratibha Nair: 02.07.2020

Edit History

  • Pratibha Nair: 23.08.2022
  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 02.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.