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 5:143282714 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM014594

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2197, 2010_April_001_054_NR3C1_138040_0014

HGVS names

This variant has 17 HGVS names - Hide

5:g.143282714C>T
ENST00000394464.6:c.2035G>A
ENSP00000377977.2:p.Gly679Ser
ENST00000231509.7:c.2038G>A
ENSP00000231509.3:p.Gly680Ser
ENST00000503201.1:c.2035G>A
ENSP00000427672.1:p.Gly679Ser
ENST00000504572.5:c.2038G>A
ENSP00000422518.1:p.Gly680Ser
ENST00000424646.6:c.1957G>A
ENSP00000405282.2:p.Gly653Ser
ENST00000343796.6:c.2035G>A
ENSP00000343205.2:p.Gly679Ser
ENST00000415690.6:c.2035G>A
ENSP00000387672.2:p.Gly679Ser
ENST00000394466.6:c.2038G>A
ENSP00000377979.2:p.Gly680Ser

About this variant

This variant overlaps 8 transcripts and is associated with 2 phenotypes.

Variant displays