Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

with COSMIC COSM3370784 (G/A) ; HGMD-PUBLIC CM960299

Most severe consequence
Evidence status

Clinical significance

This variation has 5 HGVS names - click the plus to show

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.

Variation displays