NM_001844.5:c.2818C>T

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HGVS Expressions

  • NG_008072.1:g.30829C>T
  • NM_001844.5:c.2818C>T
  • NP_001835.3:p.Arg940Ter
  • NC_000012.12:g.47978674G>A

Associated Genes

Collagen, Type II, Alpha-1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1057524114

Clinvar

391509

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
108300.3Saudi Arabia1NAPathogenicStickler Syndrome, Type IMaddirevula et al. 2018
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Contributors

  • Asha Deepthi: 08.11.2021

Edit History

  • Asha Deepthi: 08.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.