NM_178857.6:c.5484G>C

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  2. NM_178857.6:c.5484G>C

HGVS Expressions

  • NG_028035.1:g.51494G>C
  • NM_178857.6:c.5484G>C
  • NP_849188.4:p.Gln1828His

Associated Genes

RP1-Like Protein 1
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Genomic Location

chr8:10608614

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

977623581

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613587.1Lebanon1Likely PathogenicOccult Macular DystrophyJalkh et al. 2019 Parents from the same village
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Contributors

  • Pratibha Nair: 09.11.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 09.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.