NM_004318.3:c.2203C>T

HGVS Expressions

  • NG_013210.1:g.216208C>T
  • NM_004318.3:c.2203C>T
  • NP_004309.2:p.Arg735Trp
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Genomic Location

Chr8:61503433

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

137615

Epidemiology in the Arab World

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