NM_005957.4:c.1286A>C

HGVS Expressions

  • NG_013351.1:g.16685A>C
  • NM_005957.4:c.1286A>C
  • NM_001330358.1:c.1409A>C
  • NP_005948.3:p.Glu429Ala
  • NP_001317287.1:p.Glu470Ala
  • NC_000001.11:g.11794419T>G
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Clinvar Clinical Significance

Benign, Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Benign, Likely Pathogenic, Risk factor, Uncertain Significance

Variant Type

Substitution

dbSNP

1801131

Clinvar

3521

Epidemiology in the Arab World

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