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 12:52952163 (forward strand)|View in location tab

Co-located variant

PhenCode HIFD_KRT18:c.993C>T (C/T)

Most severe consequence
 
Synonymous variant
Evidence status

Clinical significance

Synonyms

LSDB KRT18:c.993C>T

HGVS names

This variant has 10 HGVS names - Show

About this variant

This variant overlaps 16 transcripts, 2 regulatory features and is associated with 1 phenotype.

Variant displays