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
Back to search Result
Genomic Location

chr3:69956530

Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

800541

Epidemiology in the Arab World

View Map
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
© CAGS 2024. All rights reserved.