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 2:98396755 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1410191, COSM722741, COSM77490 ; HGMD-PUBLIC CM980379

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_022_CNGA3_600053_0008, 8883

HGVS names

This variant has 9 HGVS names - Hide

2:g.98396755G>A
ENST00000409937.1:c.1597G>A
ENSP00000386761.1:p.Val533Met
ENST00000436404.6:c.1531G>A
ENSP00000410070.2:p.Val511Met
ENST00000393504.5:c.1585G>A
ENSP00000377140.1:p.Val529Met
ENST00000272602.6:c.1585G>A
ENSP00000272602.2:p.Val529Met

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays