Original source

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

Alleles
A/C/T | Ancestral: A | Ambiguity code: H
Location

Chromosome 12:52679885 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM940999, CM014939 ; PhenCode HIFD_KRT1:c.464T>A (A/T), HIFD_KRT1:c.464T>G (A/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

This variant has 6 HGVS names - click the plus to show

Variant allele T
12:g.52679885A>T
ENST00000252244.3:c.464T>A
ENSP00000252244.3:p.Val155Asp

Variant allele C
12:g.52679885A>C
ENST00000252244.3:c.464T>G
ENSP00000252244.3:p.Val155Gly

About this variant

This variant overlaps 4 transcripts and is associated with 5 phenotypes.

Variant displays