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 17:4900860 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM950260

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

HGVS names

This variant has 5 HGVS names - Hide

17:g.4900860T>G
ENST00000572438.1:n.536A>C
ENST00000293780.4:c.850A>C
ENSP00000293780.4:p.Thr284Pro
ENST00000381365.3:c.*327T>G

About this variant

This variant overlaps 13 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays