NM_024531.4:c.419C>T

HGVS Expressions

  • NG_032872.1:g.6355C>T
  • NM_024531.4:c.419C>T
  • NP_078807.1:p.Pro140Leu
  • NC_000008.11:g.144359911C>T
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614707.2.1Lebanon2Likely PathogenicBrown-Vialetto-Van Laere Syndrome 2Srour et al, 2014
614707.2.2Lebanon2Likely PathogenicBrown-Vialetto-Van Laere Syndrome 2Srour et al, 2014 Bother of 614707.2.1
614707.2.3Lebanon2Likely PathogenicBrown-Vialetto-Van Laere Syndrome 2Srour et al, 2014 First cousin of 614707.2.1
614707.2.4Lebanon2Likely PathogenicBrown-Vialetto-Van Laere Syndrome 2Srour et al, 2014 First cousin of 614707.2.1
614707.2.5Lebanon2Likely PathogenicBrown-Vialetto-Van Laere Syndrome 2Srour et al, 2014 First cousin of 614707.2.1
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