NM_032119.4:c.6994A>T

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  2. NM_032119.4:c.6994A>T

HGVS Expressions

  • NG_007083.2:g.168304A>T
  • NM_032119.4:c.6994A>T
  • NP_115495.3:p.Ile2332Phe
  • NC_000005.10:g.90692647A>T

Associated Genes

Adhesion G Protein-Coupled Receptor V1
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Clinvar Clinical Significance

Benign, Likely Benign, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

46359

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616726.1.1United Arab Emirates1Uncertain SignificanceKhan 2022 Proband. Disease attributed to homozygou...
616726.1.2United Arab Emirates1Uncertain SignificanceKhan 2022 Healthy father of the proband. Both ADGR...
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Contributors

  • Sami Bizzari: 25.09.2023

Edit History

  • Sami Bizzari: 25.09.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.