Original source

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

HGMD-PUBLIC CM062373

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 10 HGVS names - Hide

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

Genotyping chips

This variant has assays on 10 chips - 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