NM_001004334.4:c.349G>A

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  2. NM_001004334.4:c.349G>A

HGVS Expressions

  • NG_032655.2:g.5370G>A
  • NM_001004334.4:c.349G>A
  • NP_001004334.3:p.Asp117Asn
  • NC_000017.11:g.38343441C>T

Associated Genes

G Protein-Coupled Receptor 179
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

776996552

Clinvar

191075

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268000.13Saudi Arabia2Likely PathogenicRetinitis PigmentosaPatel et al. 2016 bone spicules, attenuated retinal arteri...
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Contributors

  • Sayeeda Hana: 29.08.2024

Edit History

  • Sayeeda Hana: 29.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.