Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 5:37020615 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3855033, COSM3855034 ; HGMD-PUBLIC CM042514

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 15885

HGVS names

This variant has 6 HGVS names - Hide

5:g.37020615C>T
ENST00000448238.2:c.5167C>T
ENSP00000406266.2:p.Arg1723Ter
ENST00000282516.12:c.5167C>T
ENSP00000282516.8:p.Arg1723Ter
ENST00000621733.1:c.1-43963C>T

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays