NM_001267550.2:c.1088C>T

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HGVS Expressions

  • NG_011618.3:g.40724C>T
  • NM_001267550.2:c.1088C>T
  • NP_001254479.2:p.Thr363Met
  • NC_000002.12:g.178795079G>A

Associated Genes

Titin
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Clinvar Clinical Significance

Likely Benign

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

199590524

Clinvar

1188645

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615248.1Lebanon1Likely BenignRefaat et al. 2019 Similarly affected brother
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Contributors

  • Pratibha Nair: 08.10.2020

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 07.02.2022
  • Pratibha Nair: 11.10.2020
  • Pratibha Nair: 08.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.