Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

Alleles
T/A | Ancestral: T | Ambiguity code: W
Location

Chromosome 12:53070099 (forward strand) | View in location tab

Co-located

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

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 4 HGVS names - click the plus to show

12:g.53070099T>A
ENST00000252244.3:c.1435A>T
ENSP00000252244.3:p.Ile479Phe
ENST00000548765.1:n.509A>T

Variation displays