NM_007055.4:c.2003+18G>A

HGVS Expressions

  • NG_029648.1:g.25022G>A
  • NM_007055.4:c.2003+18G>A
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Genomic Location

chr10:78009519

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

31144

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