Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 4:186192004 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041495

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15845, NM_207352.3:c.181G>A

This variant has 3 HGVS names - click the plus to show

About this variant

This variant overlaps 3 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays