Original source

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

Alleles
T/G|Ancestral: T|Ambiguity code: K
Location

Chromosome 17:41612324 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM994215 ; PhenCode HIFD_KRT16:c.365A>C (T/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 5 HGVS names - Hide

17:g.41612324T>G
ENST00000588319.1:n.442A>C
ENST00000301653.8:c.365A>C
ENSP00000301653.3:p.Gln122Pro
ENST00000593067.1:c.-312-38A>C

About this variant

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

Variant displays