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 17:4902010 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3370784 ; HGMD-PUBLIC CM960299

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

HGVS names

This variant has 5 HGVS names - Hide

17:g.4902010G>A
ENST00000575637.1:n.243C>T
ENST00000293780.4:c.422C>T
ENSP00000293780.4:p.Pro141Leu
ENST00000381365.3:c.*1477G>A

About this variant

This variant overlaps 13 transcripts and is associated with 2 phenotypes.

Variant displays