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 19:17877840 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1480779 ; HGMD-PUBLIC CM971392

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 10647

HGVS names

This variant has 3 HGVS names - Hide

19:g.17877840C>A
ENST00000222248.3:c.816C>A
ENSP00000222248.2:p.Cys272Ter

About this variant

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

Variant displays