Original source

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

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

Chromosome 4:52028799 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM951159 ; PhenCode SGCB:c.552T>G (A/C)

Most severe consequence
Stop gained
Evidence status

Clinical significance


LSDB 2010_April_001_070_SGCB_600900_0002, 9617

HGVS names

This variant has 7 HGVS names - Show

About this variant

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

Variant displays