Query

Please be aware that, due to the nature of this resource, results may take a long time to be computed. HmtPhenome retrieves data from external services through their API, so any issue affecting those services will obviously result in performance degradation of HmtPhenome.

Variant

Insert a variant position and alternate allele:

chr1 chr2 chr3 chr4 chr5 chr6 chr7 chr8 chr9 chr10 chr11 chr12 chr13 chr14 chr15 chr16 chr17 chr18 chr19 chr20 chr21 chr22 chrX chrM

Select a chromosome and type a nucleotide position and (optionally) alternate allele.
Available data for the given variant are returned.

Submit

Genes

Select a gene:

Start typing a gene name and select one of the suggestions provided.
Only MitoCarta genes are allowed.

Submit

Diseases

Select a disease:

Start typing a disease name and select one of the suggestions provided.

Submit

Phenotypes

Select a phenotype:

Start typing a phenotype name and select one of the suggestions provided.

Submit