Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: 0.04 (A)
Location

Chromosome 21:45511195 (forward strand) | View in location tab

Co-located

with COSMIC COSM1579620 (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 14 HGVS names - click the plus to show

21:g.45511195G>A
ENST00000359759.8:c.5023G>A
ENSP00000352798.4:p.Asp1675Asn
ENST00000355480.9:c.4318G>A
ENSP00000347665.5:p.Asp1440Asn
ENST00000423214.1:c.732G>A
ENSP00000415692.1:p.Asp245Asn
ENST00000567670.5:c.1294-12583C>T
ENST00000417954.5:c.498-12583C>T
ENST00000342220.9:c.1822G>A
ENSP00000339118.5:p.Asp608Asn
ENST00000400337.6:c.3778G>A
ENSP00000383191.2:p.Asp1260Asn
ENST00000473212.1:n.2104G>A

This variant has assays on 13 chips - click the plus to show

About this variant

This variant overlaps 13 transcripts, 1 regulatory feature, has 4073 sample genotypes, is associated with 2 phenotypes and is mentioned in 3 citations.

Variant displays