Original source

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

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

Chromosome 6:15627391 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM032218

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 14686, NM_032122.3:c.307C>T, 2010_April_001_042_DTNBP1_607145_0001

HGVS names

This variant has 21 HGVS names - Show

About this variant

This variant overlaps 11 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays