Original source

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

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

Chromosome 4:52029784 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM961272 ; PhenCode SGCB:c.323T>G (A/C)

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 2010_April_001_072_SGCB_600900_0006, 9621

HGVS names

This variant has 8 HGVS names - Show

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays