Original source

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

C/T|Ancestral: C|Ambiguity code: Y

Chromosome 16:88648103 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM001112 ; PhenCode CYBAbase_D0024:g.3939G>A (C/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 18 HGVS names - Show

About this variant

This variant overlaps 16 transcripts and is associated with 3 phenotypes.

Variant displays