NM_000350.3:c.5642C>G

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HGVS Expressions

  • NG_009073.2:g.115276C>G
  • NM_000350.3:c.5642C>G
  • NP_000341.2:p.Ala1881Gly
  • NC_000001.11:g.94010872G>C

Associated Genes

ATP-Binding Cassette, Subfamily A, Member 4
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

369973540

Clinvar

978987

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601718.2Saudi Arabia1PathogenicRetinitis Pigmentosa 19Patel et al. 2016
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Contributors

  • Sayeeda Hana: 14.08.2024

Edit History

  • Sayeeda Hana: 14.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.