Original source

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

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

Chromosome 5:143300556 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM962646

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2191, 2010_April_001_049_NR3C1_138040_0008

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

5:g.143300556A>T
ENST00000394464.5:c.1676T>A
ENSP00000377977.2:p.Ile559Asn
ENST00000231509.6:c.1679T>A
ENSP00000231509.3:p.Ile560Asn
ENST00000343796.5:c.1676T>A
ENSP00000343205.2:p.Ile559Asn
ENST00000504572.4:c.1679T>A
ENSP00000422518.1:p.Ile560Asn
ENST00000503201.1:c.1676T>A
ENSP00000427672.1:p.Ile559Asn
ENST00000415690.5:c.1676T>A
ENSP00000387672.2:p.Ile559Asn
ENST00000394466.5:c.1679T>A
ENSP00000377979.2:p.Ile560Asn
ENST00000424646.5:c.1598T>A
ENSP00000405282.2:p.Ile533Asn

About this variant

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

Variation displays