NM_000257.4:c.5702A>T

HGVS Expressions

  • NG_007884.1:g.26815A>T
  • NM_000257.4:c.5702A>T
  • NP_000248.2:p.His1901Leu
  • NC_000014.9:g.23413847T>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

14117

Epidemiology in the Arab World

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