NM_030582.4:c.3283C>T

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  2. NM_030582.4:c.3283C>T

HGVS Expressions

  • NG_011903.1:g.104249C>T
  • NM_030582.4:c.3283C>T
  • NP_085059.2:p.Arg1095Ter

Associated Genes

Collagen, Type XVIII, Alpha-1
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Genomic Location

chr21:45504431

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

753824908

Clinvar

191317

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
267750.G.1Saudi Arabia4Likely PathogenicKnobloch Syndrome 1Patel et al, 2018 2 members of a family
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Contributors

  • Sayeeda Hana: 07.07.2020

Edit History

  • Sayeeda Hana: 07.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.