BLM NM_000057.3:c.2207_2212delinsTAGATTC

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A complex mutation in the BLM gene consisting of a 6 base pair deletion of the nucleotide sequence ATCTGA encompassing nucleic acid positions 2207 through 2212 accompanied by an insertion of 7 base pairs with the sequence TAGATTC.

**Synonyms:** - BLM NM_000057.3:c.2207_2212delATCTGAins7 - BLM NM_000057.3:c.2207_2212delATCTGAinsTAGATTC - BLM NM_000057.3:c.2207_2212delATCTGAinsTAGATTC - BLM c.2207-2212delATCTGAinsTAGATTC - BLM c.2207_2212delATCTGAins7 - BLM c.2207_2212delATCTGAinsTAGATTC - BLM c2281delATCTGAinsTAGATTC - BLM(Ash) Mutation - BS c.2207_2212delATCTGAinsTAGATTC - Bloom Syndrome c.2207_2212delATCTGAinsTAGATTC - NM_000057.3:c.2207_2212delATCTGAins7 - NM_000057.3:c.2207_2212delATCTGAinsTAGATTC - NM_000057.3:c.2207_2212delinsTAGATTC - RECQ2 c.2207_2212elATCTGAinsTAGATTC - RECQL2 c.2207_2212delATCTGAinsTAGATTC - RECQL3 c.2207_2212delATCTGAinsTAGATTC - blmAsh Mutation