Original source

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

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

Chromosome 12:52676315 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM990774 ; PhenCode HIFD_KRT1:c.1435A>T (T/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 8 HGVS names - Hide

Variant allele A
12:g.52676315T>A
ENST00000252244.3:c.1435A>T
ENSP00000252244.3:p.Ile479Phe
ENST00000548765.1:n.509A>T

Variant allele C
12:g.52676315T>C
ENST00000252244.3:c.1435A>G
ENSP00000252244.3:p.Ile479Val
ENST00000548765.1:n.509A>G

About this variant

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

Variant displays