Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|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 variant

HGMD-PUBLIC CM920385

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 20 HGVS names - Hide

21:g.44889397G>A
ENST00000397850.6:c.1756C>T
ENSP00000380948.2:p.Arg586Trp
ENST00000498666.5:n.3812C>T
ENST00000475170.5:n.1156C>T
ENST00000355153.8:c.1756C>T
ENSP00000347279.4:p.Arg586Trp
ENST00000397852.5:c.1756C>T
ENSP00000380950.1:p.Arg586Trp
ENST00000523323.5:c.*1583C>T
ENST00000610622.4:c.*447C>T
ENST00000397857.5:c.1756C>T
ENSP00000380955.1:p.Arg586Trp
ENST00000302347.9:c.1756C>T
ENSP00000303242.5:p.Arg586Trp
ENST00000397854.7:c.1585C>T
ENSP00000380952.3:p.Arg529Trp
LRG_76:g.44442C>T
LRG_76t1:c.1756C>T
LRG_76p1:p.Arg586Trp

Genotyping chips

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

About this variant

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

Variant displays