NM_004625.4:c.874C>T

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  2. NM_004625.4:c.874C>T

HGVS Expressions

  • NG_008088.1:g.66002C>T
  • NM_004625.4:c.874C>T
  • NP_004616.2:p.Arg292Cys

Associated Genes

Wingless-Type MMTV Integration Site Family, Member 7A
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Genomic Location

chr3:13819120

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

104893835

Clinvar

8060

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
276820.1.1Syria2PathogenicUlna and Fibula, Absence of, with Severe Limb DeficiencyWoods et al. 2006
276820.1.2Syria2PathogenicUlna and Fibula, Absence of, with Severe Limb DeficiencyWoods et al. 2006 Sibling of 276820.1.1
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Contributors

  • Pratibha Nair: 01.09.2020

Edit History

  • Pratibha Nair: 01.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.