Original source

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

Alleles
T/C | Ancestral: T | Ambiguity code: Y
Location

Chromosome 14:60648804 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041439

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10016, 2010_April_001_087_SIX1_601205_0001

This variant has 6 HGVS names - click the plus to show

About this variant

This variant overlaps 5 transcripts, 1 regulatory feature and is associated with 3 phenotypes.

Variant displays