NM_001001557.4:c.1304C>T

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HGVS Expressions

  • NG_008981.1:g.21166C>T
  • NM_001001557.4:c.1304C>T
  • NP_001001557.1:p.Ala435Val
  • NC_000008.11:g.96144627G>A

Associated Genes

Growth/Differentiation Factor 6
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Clinvar Clinical Significance

Benign, Likely Benign, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

140782427

Clinvar

364042

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
118100.1Yemen1Uncertain SignificanceKlippel-Feil Syndrome 1, Autosomal DominantAli et al. 2024 Patient from 'family 11' in the publicat...
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Contributors

  • Asha Deepthi: 23.08.2024

Edit History

  • Asha Deepthi: 23.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.