Original source

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

C/A|Ancestral: C|Ambiguity code: M

Chromosome 3:122284482 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM002582 ; PhenCode CASRdb_c.2528C>A (C/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 9999, 2010_April_001_048_CASR_601199_0034

HGVS names

This variant has 5 HGVS names - Show

About this variant

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

Variant displays