NM_000350.3:c.1140T>A

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  2. NM_000350.3:c.1140T>A

HGVS Expressions

  • NG_009073.2:g.46727T>A
  • NM_000350.3:c.1140T>A
  • NP_000341.2:p.Asn380Lys
  • NC_000001.11:g.94079421A>T

Associated Genes

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

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

61748549

Clinvar

99033

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601718.2Saudi Arabia1Likely PathogenicRetinitis 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.