Original source

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

Alleles
C/A|Ancestral: C|Ambiguity code: M
Location

Chromosome 17:4901932 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3672494 ; HGMD-PUBLIC CM970307

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

HGVS names

This variant has 5 HGVS names - Hide

17:g.4901932C>A
ENST00000575637.1:n.274+47G>T
ENST00000293780.4:c.500G>T
ENSP00000293780.4:p.Arg167Leu
ENST00000381365.3:c.*1399C>A

About this variant

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

Variant displays