NM_138425.4:c.1A>G

HGVS Expressions

  • NG_034262.1:g.5306A>G
  • NM_138425.4:c.1A>G
  • NP_612434.1:p.Met1?
  • NC_000012.12:g.6944122A>G
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

41942

Epidemiology in the Arab World

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