NM_001077418.3:c.664G>A

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HGVS Expressions

  • NG_033109.1:g.18685G>A
  • NM_001077418.3:c.664G>A
  • NP_001070886.1:p.Val222Ile
  • NC_000016.10:g.75542602C>T

Associated Genes

Transmembrane Protein 231
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

397514753

Clinvar

64619

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615397.1Saudi Arabia2NAPathogenicMeckel Syndrome, Type 11Shaheen et al. 2013b Index from 'family 1' in the publication
615399.3.1Saudi Arabia2NAPathogenicMeckel Syndrome, Type 11Al-Hamed et al. 2016 Patient from 'family FT-18' in the publi...
615399.3.2Saudi Arabia1NAAl-Hamed et al. 2016 Father of 615399.3.1
615399.3.3Saudi Arabia1NAAl-Hamed et al. 2016 Mother of 615399.3.1
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Contributors

  • Asha Deepthi: 15.03.2023

Edit History

  • Asha Deepthi: 15.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.