Original source

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

G/C | Ancestral: G | Ambiguity code: S

Chromosome 13:32336771 (forward strand) | View in location tab

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB NM_000059.3:c.2416G>C

HGVS names

This variant has 9 HGVS names - Show

About this variant

This variant overlaps 5 transcripts and is associated with 3 phenotypes.

Variant displays