This variation has been flagged

Flagged as suspect by dbSNP

Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

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

Chromosome 21:46309312 (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 19 HGVS names - click the plus to show

21:g.46309312G>A
ENST00000397850.2:c.1756C>T
ENSP00000380948.2:p.Arg586Trp
ENST00000498666.1:n.3812C>T
ENST00000475170.1:n.1156C>T
ENST00000355153.4:c.1756C>T
ENSP00000347279.4:p.Arg586Trp
ENST00000397852.1:c.1756C>T
ENSP00000380950.1:p.Arg586Trp
ENST00000523323.1:c.*1583C>T
ENST00000397857.1:c.1756C>T
ENSP00000380955.1:p.Arg586Trp
ENST00000302347.5:c.1756C>T
ENSP00000303242.5:p.Arg586Trp
ENST00000397854.3:c.1585C>T
ENSP00000380952.3:p.Arg529Trp
LRG_76:g.44442C>T
LRG_76t1.1:c.1756C>T
LRG_76p1.1:p.Arg586Trp

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni1-Quad

Variation displays