NM_000283.3:c.992+1G>A

HGVS Expressions

  • NG_009839.1:g.34316G>A
  • NM_000283.3:c.992+1G>A
Back to search Result
Genomic Location

chr4:654889

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613801.1Saudi Arabia2PathogenicRetinitis Pigmentosa 40Patel et al, 2018
© CAGS 2024. All rights reserved.