NM_001040436.3:c.156C>G

HGVS Expressions

  • NG_028122.1:g.5235C>G
  • NM_001040436.3:c.156C>G
  • NP_001035526.1:p.Phe52Leu
  • NC_000012.12:g.32755719G>C
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1056

Epidemiology in the Arab World

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