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 13:23324513 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM961273 ; PhenCode SGCG:c.848G>A (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 16013, 2010_April_001_063_SGCG_608896_0002

HGVS names

This variant has 6 HGVS names - Hide

13:g.23324513G>A
ENST00000218867.3:c.848G>A
ENSP00000218867.3:p.Cys283Tyr
LRG_207:g.148593G>A
LRG_207t1:c.848G>A
LRG_207p1:p.Cys283Tyr

About this variant

This variant overlaps 7 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays