Original source

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

G/A | Ancestral: G | Ambiguity code: R

Chromosome 17:4900845 (forward strand) | View in location tab


with HGMD-PUBLIC CM960300

Most severe consequence
Missense variant
Evidence status

Clinical significance

HGVS names

This variant has 5 HGVS names - Show

About this variant

This variant overlaps 13 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays