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ALPORT Syndrome and COL4A5

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). The aim of this database is to record all known variants in the COL4A5 gene and their clinical significance. The GenBank sequence NC_000023.9 is used as the reference sequence. 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. ARUP offers full gene sequencing analysis (test 0051786) for classic X-linked Alport syndrome (80% of mutations) and targeted testing for p.C1564S (c.4692G>A), p.L1649R (c.4946T>G), p.R1677Q (c.5232G>A) mutations for adult type Alport syndrome (test 0051710).

Catalogue Of Somatic Mutations In Cancer"  info

COSMIC (Catalogue of Somatic Mutations in Cancer; is a comprehensive resource that aims to curate the world's literature on somatic mutations in known cancer genes. The catalog includes full and up-to-date curation of mutation data in over 60 well known point-mutated genes, together with novel gene fusion products expressed across genome rearrangement breakpoints, and all of the somatic mutation data from candidate gene screens at the UK's Cancer Genome Project.

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations"  info

ECARUCA is a database which collects and provides cytogenetic and clinical information on rare chromosomal disorders, including microdeletions and microduplications.

Factor H Associated HUS - Mutation Database"  info

Database about the HUS (Haemolytic Uraemic Syndrome); this is a disease associated with microangiopathic haemolytic anemia, thrombocytopenia and acute renal failure. A subgroup of the syndrome is strongly associated with abnormalities within the complement regulator factor H gene.

Human Genome Variation Database

The objective of HGVbase (the Human Genome Variation Database) is to provide an accurate, high utility and ultimately fully comprehensive catalog of normal human gene and genome variation, useful as a research tool to help define the genetic component of human phenotypic variation. All records are highly curated and annotated, ensuring maximal utility and data accuracy.
HGVbase is the product of a collaboration between the Karolinska Institute (Sweden), the European Bioinformatics Institute (UK).

My Cancer Genome. Genetically Informed Cancer Medicine."  info

My Cancer Genome is a precision cancer medicine knowledge resource for physicians, patients, caregivers and researchers. My Cancer Genome gives up-to-date information on what mutations make cancers grow and related therapeutic implications, including available clinical trials. My Cancer Genome is a one-stop tool that matches tumor mutations to therapies, making information accessible and convenient for busy clinicians.


OMIMALLELE contains alleles (mutations and polymorphisms) reported in OMIM.

Human TBX5 Gene Mutation Database"  info

Germline mutations of the TBX5 gene were identified as the primary cause in up to 70% of patients with Holt-Oram syndrome (HOS), an autosomal dominant disorder characterized by malformations of the upper limbs and cardiac defects. The database informs about the genetic variations within the TBX5 gene. The databank is maintained by the Institute of Human Genetics, University of Leipzig, Germany.