RevUP

Includes questions about the variant

Includes questions about the gene and the variant

Allows you to modify your answers and add comments / remarks

Example Variants

Patient ID

(optional)

Variant ID

(optional)

Reference Genome *

GRCh38/hg38

GRCh37/hg19

Variant Coordinates *

chr

pos

alt

chr-pos-ref-alt

Target Gene *

Patient phenotype

Variant genotype in the patient

Identification Method

Variant shows segregation in the family

Variant observed in multiple, unrelated families with the same disease phenotype

Variant or locus previously statistically associated with the same or a similar phenotype

* Indicates the field is required