Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 17:4900845 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM960300

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

HGVS names

This variant has 5 HGVS names - Hide

17:g.4900845G>A
ENST00000572438.1:n.551C>T
ENST00000293780.4:c.865C>T
ENSP00000293780.4:p.Leu289Phe
ENST00000381365.3:c.*312G>A

About this variant

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

Variant displays