C188671Level 6
SIX1 NM_005982.4:c.530A>G
**Semantic type:** Cell or Molecular Dysfunction
**Definition:** A nucleotide substitution at position 530 of the coding sequence of the SIX1 gene where adenine has been mutated to guanine.
**Synonyms:** - BOS3 c.530A>G - DFNA23 c.530A>G - NM_005982.4:c.530A>G - SIX Homeobox 1 c.530A>G - SIX1 c.530A>G - Sine Oculis Homeobox Homolog 1 c.530A>G - TIP39 c.530A>G
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Cross-system equivalences0
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