NM_001354604.2:c.1031C>T

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  2. NM_001354604.2:c.1031C>T

HGVS Expressions

  • NG_011631.1:g.222049C>T
  • NM_001354604.2:c.1031C>T
  • NP_001341533.1:p.Pro344Leu

Associated Genes

Microphthalmia-Associated Transcription Factor
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Genomic Location

chr3:69956530

Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

756923654

Clinvar

800541

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600316.1.1Lebanon2NALikely PathogenicDeafness, Autosomal Recessive 3Khalil et al, 2020
600316.1.2Lebanon2NALikely PathogenicDeafness, Autosomal Recessive 3Khalil et al, 2020
600316.1.3Lebanon; Saudi Arabia1NAKhalil et al, 2020 Father of the affected siblings
600316.1.4Lebanon; Saudi Arabia1NAKhalil et al, 2020 Mother of the affected siblings
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Contributors

  • Asha Deepthi: 22.10.2020

Edit History

  • Asha Deepthi: 22.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.