Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: < 0.01 (A)
Location

Chromosome 21:44889397 (forward strand) | View in location tab

Co-located

with COSMIC COSM1414454 (G/A) ; HGMD-PUBLIC CM920385

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 20 HGVS names - click the plus to show

21:g.44889397G>A
ENST00000397850.5:c.1756C>T
ENSP00000380948.2:p.Arg586Trp
ENST00000498666.4:n.3812C>T
ENST00000475170.4:n.1156C>T
ENST00000355153.7:c.1756C>T
ENSP00000347279.4:p.Arg586Trp
ENST00000397852.4:c.1756C>T
ENSP00000380950.1:p.Arg586Trp
ENST00000523323.4:c.*1583C>T
ENST00000610622.3:c.*447C>T
ENST00000397857.4:c.1756C>T
ENSP00000380955.1:p.Arg586Trp
ENST00000302347.8:c.1756C>T
ENSP00000303242.5:p.Arg586Trp
ENST00000397854.6:c.1585C>T
ENSP00000380952.3:p.Arg529Trp
LRG_76:g.44442C>T
LRG_76t1:c.1756C>T
LRG_76p1:p.Arg586Trp

Genotyping chips

This variation has assays on: HumanCoreExome-12, Illumina_HumanOmni1-Quad, Illumina_ExomeChip

About this variant

This variant overlaps 12 transcripts, has 2506 individual genotypes and is associated with 3 phenotypes.

Variation displays