NM_006445.4:c.6928A>G

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HGVS Expressions

  • NG_009118.1:g.39001A>G
  • NM_006445.4:c.6928A>G
  • NP_006436.3:p.Arg2310Gly
  • NC_000017.11:g.1650882T>C

Associated Genes

Pre-mRNA-Processing Factor 8
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

752997229

Clinvar

438226

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600059.1United Arab Emirates1NALikely PathogenicRetinitis Pigmentosa 13Khan. 2020
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Contributors

  • Asha Deepthi: 01.06.2021

Edit History

  • Pratibha Nair: 12.01.2023
  • Asha Deepthi: 01.06.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.