Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.30 (T)
Location

Chromosome 16:48224287 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM062373

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 5 synonyms - click the plus to show

This variant has 10 HGVS names - click the plus to show

16:g.48224287C>T
ENST00000394747.5:c.538G>A
ENSP00000378230.1:p.Gly180Arg
ENST00000394748.5:c.538G>A
ENSP00000378231.1:p.Gly180Arg
ENST00000353782.9:c.538G>A
ENSP00000311326.6:p.Gly180Arg
ENST00000567385.5:n.936G>A
ENST00000356608.6:c.538G>A
ENSP00000349017.2:p.Gly180Arg

This variant has assays on 10 chips - click the plus to show

About this variant

This variant overlaps 7 transcripts, has 3718 sample genotypes, is associated with 4 phenotypes and is mentioned in 18 citations.

Variant displays