Original source

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

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

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

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