Feature HGMD Public HGMD Pro
Up-to-date content
Displays mutations 3 years or older X
Updates mutations every 3 months X
Search features
Search by gene symbol X X
Search by gene description X X
Search by OMIM number X X
Search by disease/phenotype X X
Search missense/nonsense variants X X
Search splice mutations X X
Search regulatory mutations X X
Search small deletions X X
Search small indels X X
Search gross deletions X X
Search gross insertions X X
Search complex rearrangements X X
Search repeat variations X X
Search by chromosomal location X
Search by HGNC/OMIM/GDB/Entrez ID X
Search by RefSeq transcript X
Search by gene ontology X
Search using operators (+,-,*,””) X
Search phenotype using UMLS semantic X
Search phenotype using HGMD phenotype X
Search references by first author X
Search references by PubMed journal X
Search references by PubMed ID X
Search references by publication year X
Search references by HGMD gene X
Search references by Medline journal abbreviation X
Batch search X
Advanced search (by substitution, motif, function,etc.) X
Display features
HGMD accession ID X X
Codon change X X
Amino acid change X X
Codon number X X
Associated phenotype X X
References X X
Misense/nonsense mutations X X
Splicing mutations X X
Regulatory mutations X X
Small deletions X X
Small insertions X X
Gross deletions X X
Gross insertions/duplications X X
Complex rearrangements X X
Repeat variations X X
cDNA sequence X X
Extended cDNA X
Mutation’s first published report X
Related genes X
Gene ontology X
Variant class (DM, DM?, FP, DP, DFP) X
Gene aliases X
Mutation sorted by location X
Mutation sorted by phenotype X
Mutation sorted by author X
Mutation sorted by year X
Mutation sorted by entrydate X
Extra information (HGVS, VCF, rankscore, etc.) X
Comparison between hg19 and hg38 X
Amino acid comparison X
dbNSFP predictions (CADD, MutationTaster, SIFT, Polyphen, etc. X
Orthologous amino acid conservation comparison X

 

© QIAGEN 2019. All rights reserved - Trademarks & Disclaimers