Original source

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

T/A|Ancestral: T|Ambiguity code: W

Chromosome 3:122284134 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM062491 ; PhenCode CASRdb_c.2180T>A (T/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 10010, 2010_April_001_058_CASR_601199_0045

HGVS names

This variant has 5 HGVS names - Show

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays