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

Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

11123

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(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
313900.2.2LebanonPathogenicThrombocytopenia 1Ho et al. 2001 Sibling of 313900.2.1 and cousin to 3139...
313900.2.3LebanonPathogenicThrombocytopenia 1Ho et al. 2001 Sibling of 313900.2.4 and cousin to 3139...
313900.2.4LebanonPathogenicThrombocytopenia 1Ho et al. 2001 Sibling of 313900.2.3 and cousin to 3139...
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