Original source

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

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

Chromosome 17:41612306 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM013760 ; PhenCode HIFD_KRT16:c.383T>A (A/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 6 synonyms - Show

HGVS names

This variant has 5 HGVS names - Hide

17:g.41612306A>T
ENST00000588319.1:n.460T>A
ENST00000593067.1:c.-312-20T>A
ENST00000301653.8:c.383T>A
ENSP00000301653.3:p.Leu128Gln

About this variant

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

Variant displays