Original source

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

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

Chromosome 11:45806240 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM011826 ; PhenCode SLC35C1base_D0036:g.1434C>T (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

About this variant

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

Variant displays