Alport Syndrome is a progressive renal disease with cochlear and ocular involvement. The most common form (~80%) is inherited in an X-linked pattern. X-linked Alport Syndrome (OMIM #301050) is caused by mutations in the type IV collagen alpha chain 5 (COL4A5, OMIM #303630).
The aim of this database is to record all known variants in the COL4A5 gene and their clinical significance. The RefSeqGen sequence NC_000023.10 and the transcript NM_000495 (51 exons) are used as the reference sequences. The Human Genome Variation Society nomenclature has been used to describe COL4A5 mutations, as well as original nomenclature described by Zhou et al (1994), which includes 202 nucleotides of 5' UTR.
Currently, ARUP Laboratories offers full-gene analysis of COLA45 [tests #2002398 (sequencing and deletion duplication), #0051786 (sequencing) and #2002394 (deletion duplication)]. Familial Mutation, Targeted Sequencing (#2001961) is also offered for individual from a family with a known mutation.
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The ALPORT database currently archives 772 total entries.
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