NM_173630.4:c.3190A>C

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  2. NM_173630.4:c.3190A>C

HGVS Expressions

  • NG_033104.1:g.83032A>C
  • NM_173630.4:c.3190A>C
  • NP_775901.3:p.Lys1064Gln
  • NC_000018.10:g.70127695T>G

Associated Genes

Rotatin
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

864321621

Clinvar

219185

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614833.2Saudi Arabia2PathogenicMicrocephaly, Short Stature, and Polymicrogyria with or without Seizures Shaheen et al. 2019
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Contributors

  • Sayeeda Hana: 23.01.2022

Edit History

  • Sayeeda Hana: 24.01.2022
  • Sayeeda Hana: 23.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.