NM_012309.5:c.2411G>A

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HGVS Expressions

  • NG_042866.1:g.637434G>A
  • NM_012309.5:c.2411G>A
  • NP_036441.2:p.Arg804Gln
  • NC_000011.10:g.70492363C>T

Associated Genes

SH3 and Multiple Ankyrin Repeat Domains 2
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

782372524

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601097.1Saudi Arabia1Uncertain SignificanceMonies et al. 2017 Patient has heterozygous variants in PMP...
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Contributors

  • Asha Deepthi: 06.11.2024

Edit History

  • Asha Deepthi: 06.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.