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One of the cases had a missense mutation (c.416C>T), which is associated with Type II diabetes mellitus in the HGMD. The other patient was carrying both heterozygous HNF4A (c.416C>T) and HNF1A mutations.
The number of individual FLCN mutations (>160) in the HGMD also suggests that novel mutation in the FLCL gene may be a more common cause of Birt-Hogg-Dube syndrome than has previously been described.
Data are derived from the earliest published link for each gene:disease pair in the HGMD database.
Up to date, 718 different kinds of mutations in CYBB gene were reported in HGMD data base (http://www.hgmd.cf.ac.uk/ac/gene.php?gene=CYBB).
(1) Based on the literature review, PubMed search, and Human Gene Mutation Database (HGMD), this mutation has not been previously reported.
Furthermore, we kept variants which are predicted to have a deleterious effect upon protein coding sequences (e.g., frameshift, in-frame indel, stop codon change, missense or predicted to disrupt splicing by MaxEnt Scan) and variants which were experimentally observed to be associated with a phenotype: pathogenic, possibly pathogenic, or disease-associated according to the Human Gene Mutation Database (HGMD).
The kit makes it possible for clinical researchers to make variant calls in regions of significance by targeting regions defined in HGMD, OMIM and ClinVar databases.
e potential for that gure to grow signicantly in the years ahead saw Scottish Enterprise recently establish a high growth markets desk (HGMD) service for the Middle East to raise awareness about the scale of the opportunities across business sectors.
More than 500 gene mutations coding for the enzyme have been recorded in Fabry patients in the Human Gene Mutation Database (HGMD).
To date, more than 90 ACADM gene mutations have been described, with most being missense (HGMD Professional Database: http://www.biobase-international.com/product/ hgmd).
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- hGK-1 KLK2A2
- HGNC Comparison of Orthology Predictions