NM_000079.4:c.440_444del

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HGVS Expressions

  • NG_008172.1:g.15154_15158del
  • NM_000079.4:c.440_444del
  • NP_000070.1:p.Ser146_Tyr147insTer
  • NC_000002.12:g.174754316_174754320del

Associated Genes

Cholinergic Receptor, Nicotinic, Alpha Polypeptide 1
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

3362606

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601462.1Saudi Arabia1Likely PathogenicMyasthenic Syndrome, Congenital, 1A, Slow-ChannelMonies et al. 2017
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Contributors

  • Asha Deepthi: 07.11.2024

Edit History

  • Asha Deepthi: 07.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.