NM_000350.3:c.2791G>A

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  2. NM_000350.3:c.2791G>A

HGVS Expressions

  • NG_009073.1:g.79104G>A
  • NM_000350.3:c.2791G>A
  • NP_000341.2:p.Val931Met

Associated Genes

ATP-Binding Cassette, Subfamily A, Member 4
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Genomic Location

chr1:94047046

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

58331765

Clinvar

7880

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248200.1Saudi Arabia2Likely PathogenicStargardt Disease 1Allikmets et al. 1997
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Contributors

  • Sayeeda Hana: 18.07.2020

Edit History

  • Sayeeda Hana: 18.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.