Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP


Chromosome 17: between 15239508 and 15239509 (forward strand)|View in location tab

Co-located variant

PhenCode IPNMDB_21 (-/C)

Most severe consequence
Frameshift variant
Evidence status

Clinical significance


LSDB NM_000304.2:c.281_282insG, NM_000304.2:c.281dupG

HGVS names

This variant has 18 HGVS names - Show

About this variant

This variant overlaps 8 transcripts and is associated with 3 phenotypes.

Variant displays