region p23.2q22.3
Gene name:OMIM ID:
Chromosome location: p23.2q22.3
Mutations
| Disease/Phenotype | Recombinant chromosome 8 syndrome (San Luis Valley syndrome) |
|---|---|
| DNA Change | rec(8)dup(8q)inv(8) |
| A.A. Change | |
| Exon/Intron | |
| Mutation Type | others |
| Reference | Vera-Carbonell A, López-González V, Bafalliu JA, Piñero-Fernández J, Susmozas J, Sorli M, López-Pérez R, Fernández A, Guillén-Navarro E, López-Expósito I.Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with San Luis Valley syndrome. Am J Med Genet A. 2013 Sep;161(9):2369-75. |
Variant not named according to HGVS recommendations