Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

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

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_070_SGCB_600900_0002, 9617

This variant has 7 HGVS names - click the plus to show

About this variant

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

Variant displays