NM_001014796.3:c.2254C>T

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  2. NM_001014796.3:c.2254C>T

HGVS Expressions

  • NG_016290.2:g.150129C>T
  • NM_001014796.3:c.2254C>T
  • NP_006173.2:p.Arg752Cys

Associated Genes

Discoidin Domain Receptor Family, Member 2
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Genomic Location

chr1:162776341

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121964863

Clinvar

12313

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
271665.1.1Egypt2PathogenicSpondylometaepiphyseal Dysplasia, Short Limb-Hand TypeDawson et al. 1999; Al-Gazali et al. 1996; Ali et al. 2010
271665.1.2Egypt2PathogenicSpondylometaepiphyseal Dysplasia, Short Limb-Hand TypeAl-Gazali et al. 1996; Ali et al. 2010 Sibling of 271665.1.1
271665.1.3Egypt1PathogenicAli et al. 2010 Father of 271665.1.1
271665.1.4Egypt1PathogenicAli et al. 2010 Mother of 271665.1.1
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Contributors

  • Pratibha Nair: 02.09.2020

Edit History

  • Sayeeda Hana: 02.09.2020
  • Pratibha Nair: 02.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.