NM_153816.6:c.1132C>T

HGVS Expressions

  • NG_047171.1:g.55420C>T
  • NM_153816.6:c.1132C>T
  • NP_722523.1:p.Arg378Ter
  • NC_000006.12:g.85543737G>A

Associated Genes

Sorting Nexin 14
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

190318

Epidemiology in the Arab World

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