NM_001164508.2:c.11806-1G>A

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  2. NM_001164508.2:c.11806-1G>A

HGVS Expressions

  • NG_009382.2:g.128621G>A
  • NM_001164508.2:c.11806-1G>A
  • NP_001157980.2:p.?
  • NC_000002.12:g.151610867C>T

Associated Genes

Nebulin
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

886041851

Clinvar

280692

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
256030.1Saudi Arabia2Likely PathogenicNemaline Myopathy 2Monies et al. 2017 Test sample from fetus of unknown sex
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Contributors

  • Asha Deepthi: 12.11.2024

Edit History

  • Asha Deepthi: 12.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.