NM_001042492.3:c.6704+2T>G

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HGVS Expressions

  • NG_009018.1:g.247906T>G
  • NM_001042492.3:c.6704+2T>G
  • NC_000017.11:g.31337882T>G

Associated Genes

Neurofibromin 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1555534928

Clinvar

547681

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
162200.21Saudi Arabia1NAPathogenicNeurofibromatosis, Type IMaddirevula et al. 2018 De novo mutation; Patient's parents are ...
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Contributors

  • Asha Deepthi: 04.02.2022

Edit History

  • Asha Deepthi: 04.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.