NM_000377.3:c.134C>T

HGVS Expressions

  • NG_007877.1:g.5488C>T
  • NM_000377.3:c.134C>T
  • NP_000368.1:p.Thr45Met

Associated Genes

WAS Gene
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Genomic Location

chrX:48684284

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

11123

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
301000.2.1Lebanon1PathogenicWiskott-Aldrich SyndromeMansour et al, 2020
301000.2.2Lebanon1PathogenicWiskott-Aldrich SyndromeMansour et al, 2020 Brother of 301000.2.1
301000.2.3Lebanon1PathogenicWiskott-Aldrich SyndromeMansour et al, 2020 Brother of 301000.2.1
301000.2.4Lebanon1PathogenicWiskott-Aldrich SyndromeMansour et al, 2020 Brother of 301000.2.1
301000.2.5Lebanon1Mansour et al, 2020 Mother of 301000.2.1
313900.2.1Lebanon1PathogenicThrombocytopenia 1Ho et al. 2001
313900.2.2Lebanon1PathogenicThrombocytopenia 1Ho et al. 2001 Sibling of 313900.2.1 and cousin to 3139...
313900.2.3Lebanon1PathogenicThrombocytopenia 1Ho et al. 2001 Sibling of 313900.2.4 and cousin to 3139...
313900.2.4Lebanon1PathogenicThrombocytopenia 1Ho et al. 2001 Sibling of 313900.2.3 and cousin to 3139...
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