Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | 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

This variant has 9 HGVS names - click the plus to show

About this variant

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

Variant displays