NM_199355.4:c.1298C>A

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  2. NM_199355.4:c.1298C>A

HGVS Expressions

  • NG_031879.2:g.80773C>A
  • NM_199355.4:c.1298C>A
  • NP_955387.1:p.Thr433Asn
  • NC_000016.10:g.77359342G>T

Associated Genes

A Disintegrin-Like and Metalloproteinase with Thrombospondin Type 1 Motif, 18
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

2056676844

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615458.2.1Saudi Arabia2PathogenicMicrocornea, Myopic Chorioretinal Atrophy, And TelecanthusMaddirevula et al. 2020
615458.2.2Saudi Arabia2PathogenicMicrocornea, Myopic Chorioretinal Atrophy, And TelecanthusMaddirevula et al. 2020 Sister of 615458.2.1
615458.2.3Saudi Arabia1Maddirevula et al. 2020 Father of 615458.2.1
615458.2.4Saudi Arabia1Maddirevula et al. 2020 Mother of 615458.2.1
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Contributors

  • Sayeeda Hana: 03.11.2022

Edit History

  • Sayeeda Hana: 03.11.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.