Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
T/A | Ancestral: T | Ambiguity code: W
Location

Chromosome 5:143295561 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM910195

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_047_NR3C1_138040_0001, 2184

This variant has 17 HGVS names - click the plus to show

5:g.143295561T>A
ENST00000394464.6:c.1922A>T
ENSP00000377977.2:p.Asp641Val
ENST00000231509.7:c.1925A>T
ENSP00000231509.3:p.Asp642Val
ENST00000503201.1:c.1922A>T
ENSP00000427672.1:p.Asp641Val
ENST00000504572.5:c.1925A>T
ENSP00000422518.1:p.Asp642Val
ENST00000424646.6:c.1844A>T
ENSP00000405282.2:p.Asp615Val
ENST00000343796.6:c.1922A>T
ENSP00000343205.2:p.Asp641Val
ENST00000415690.6:c.1922A>T
ENSP00000387672.2:p.Asp641Val
ENST00000394466.6:c.1925A>T
ENSP00000377979.2:p.Asp642Val

About this variant

This variant overlaps 9 transcripts and is associated with 2 phenotypes.

Variant displays