NM_001034850.3:c.873+2T>C

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HGVS Expressions

  • NG_016644.2:g.143978T>C
  • NM_001034850.3:c.873+2T>C
  • NP_001030022.1:p.?
  • NC_000005.10:g.16478032A>G

Associated Genes

Reticulophagy Regulator 1
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

137852738

Clinvar

21259

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613115.2.1United Arab Emirates2PathogenicNeuropathy, Hereditary Sensory and Autonomic, Type IIBKurth et al. 2009
613115.2.2United Arab Emirates2PathogenicNeuropathy, Hereditary Sensory and Autonomic, Type IIBKurth et al. 2009 Sibling of 613115.2.1
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Contributors

  • Sayeeda Hana: 14.09.2022

Edit History

  • Pratibha Nair: 28.11.2022
  • Sayeeda Hana: 14.09.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.