Original source

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

Alleles
T/C|Ancestral: T|Ambiguity code: Y
Location

Chromosome 17:41612315 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM950725 ; PhenCode HIFD_KRT16:c.374A>G (T/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 5 HGVS names - Hide

17:g.41612315T>C
ENST00000588319.1:n.451A>G
ENST00000301653.8:c.374A>G
ENSP00000301653.3:p.Asn125Ser
ENST00000593067.1:c.-312-29A>G

About this variant

This variant overlaps 4 transcripts and is associated with 6 phenotypes.

Variant displays