Original source

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

Alleles
A/T|Ancestral: A|Ambiguity code: W
Location

Chromosome 6:18122531 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM033787

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 3 HGVS names - Hide

6:g.18122531A>T
ENST00000340650.4:c.76T>A
ENSP00000345464.3:p.Cys26Ser

About this variant

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

Variant displays