NM_206933.4:c.8681G>A

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  2. NM_206933.4:c.8681G>A

HGVS Expressions

  • NG_009497.2:g.550691G>A
  • NM_206933.4:c.8681G>A
  • NP_996816.3:p.Arg2894Lys
  • NC_000001.11:g.215877758C>T

Associated Genes

USH2A gene
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1369414978

Clinvar

495329

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
276901.5Jordan2PathogenicUsher Syndrome, Type IIAReddy et al. 2014 The patient's father, sister, paternal a...
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Contributors

  • Sayeeda Hana: 10.03.2021

Edit History

  • Sayeeda Hana: 22.03.2021
  • Sayeeda Hana: 10.03.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.