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Can I find mutations associated with two (or more) phenotypes in HGMD®?


HGMD Online

In the quick search part of the HGMD® Advanced search, what does the ranking score relate to?


HGMD Online | Description of the Ranking Score used in the Quick Search of HGMD® Advanced

Which genome build are you currently using for mapping HGMD® mutations?


HGMD Online | Information about the genome build used in HGMD®

The HGMD® application lists multiple articles per ALLMUT record. Where are these stored and will all papers specified for an ALLMUT record be in agreement about the risk allele?


HGMD Download | Describes how to find additional references in the HGMD® download version

How to perform a batch search in HGMD®?


HGMD Online

Is the article/paper identified by the PMID in an ALLMUT record one of the studies that established the genetic association with the disease/phenotype?


HGMD Download | Description of the PMID column of the ALLMUT table (HGMD® download version)

Two new germinal mutations recently identified in our lab, are not reported in the HGMD® database. How can they be added?


HGMD Online

Why do numbers for sequences in HGMD® differ from numbering in (primary) references?


HGMD Online

How does the HGMD® define a genomic alteration as a mutation or a polymorphism?


HGMD Online

Do you include variants from genome-wide association studies (GWAS) papers in HGMD®?


HGMD Online

Which strand are the sequences in the HGMD® database taken from?


HGMD Online

Is the risk allele for a given site-disease association available (or derivable from data) in the HGMD database?


HGMD Online

Is the first position in a chromosome counted as "0" or "1" for the purpose of determining genomic coordinates?


HGMD Online | Chromosome coordinate system used in HGMD®

How do I interpret the MutPred score and the MutPred hypothesis?


HGMD Online

What is MutPred?


HGMD Online

What is SIFT?


HGMD Online | Description of the SIFT algorithm

How do I interpret the SIFT score?


HGMD Online

Is there a way to get a complete SNP list for a gene, including mutations which are not disease-causing?


HGMD Online

How does the HGMD® database represent a simple, single-base insertion?


HGMD Online

How do I obtain the MutPred scores from the HGMD® download version?


HGMD Online

Why does the description of a deletion not always match between the mutation description, the HGVS nomenclature, and the VCF format?


HGMD Online | Why does the lower case "acag" representation in TACTAC^414TTAGacagAGAAGCTGGG not match the c.1245_1248delCAGA position for the deletion CD982750 in SMAD4?

How may I find the location of mutations in a specific splice variant for genes with multiple splicing variants?


HGMD Online | Is the codon numbering system for different mutations in a gene consistent, i.e. is the numbering for different mutations all based on one splicing variant? If yes, where could I find the accession number of this mRNA splicing variant?

Does the HGMD® provide any information regarding polymorphisms found in human genes?


HGMD Online

How frequently is the HGMD® database updated?


HGMD Online

How should I reference HGMD® Professional in a scientific article?


HGMD Online | Citation guidelines for HGMD® Professional

How do you decide which reference cDNA to link to a gene entry in HGMD®?


HGMD Online

In HGMD®, there are some common SNPs listed as mutations. Are you going to correct these?


HGMD Online