Original source

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

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

Chromosome 17:72122804 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM004150

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15541, 2010_April_001_215_SOX9_608160_0006

HGVS names

This variant has 5 HGVS names - Show

About this variant

This variant overlaps 7 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays