Original source

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

T/A/G|Ancestral: T|Ambiguity code: D

Chromosome 18:31595152 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM890113, CM910376

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 4854, 4838

HGVS names

This variant has 22 HGVS names - Show

About this variant

This variant overlaps 12 transcripts, 1 regulatory feature and is associated with 5 phenotypes.

Variant displays