formatSingleHgvs: Get Hgvs HGVS ID from chromosome, position, reference and...

In myvariant: Accesses MyVariant.info variant query and annotation services

Description

Create a single HGVS ID for a variant from chromosome, position, reference and alternate alleles.

Usage

formatSingleHgvs(chrom, pos, ref, alt, mutant_type=FALSE)

Arguments

chrom	Chromosome.
pos	Position of the variant on the reference genome (hg19).
ref	Reference allele.
alt	Alternate allele.
mutant_type	Logical indicating whether to return the type of mutation along with the HGVS ID.

Value

returns a string

References

https://myvariant.info http://www.hgvs.org/mutnomen/recs-DNA.html

See Also

formatHgvs

Examples

## return HGVS ID for a variant
formatSingleHgvs(1, 35367, "G", "A")

myvariant documentation built on Nov. 8, 2020, 5:32 p.m.