This variant has been flagged

Variation has more than 3 different alleles

Original source

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

Alleles
A/C/G/T | Ancestral: A | Ambiguity code: N
Location

Chromosome 12:52492669 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM015023 ; PhenCode HIFD_KRT6A:c.520T>G (A/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 5 synonyms - click the plus to show

This variant has 12 HGVS names - click the plus to show

About this variant

This variant overlaps 18 transcripts, 1 regulatory feature and is associated with 4 phenotypes.

Variant displays