Original source

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

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

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

Co-located variant

HGMD-PUBLIC CM041439

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10016, 2010_April_001_087_SIX1_601205_0001

HGVS names

This variant has 6 HGVS names - Show

About this variant

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

Variant displays