Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: 0.44 (T)
Location

Chromosome 9:104858586 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM030397

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 7 synonyms - Show

HGVS names

This variant has 5 HGVS names - Hide

9:g.104858586C>T
ENST00000374736.7:c.656G>A
ENSP00000363868.3:p.Arg219Lys
ENST00000423487.6:c.656G>A
ENSP00000416623.2:p.Arg219Lys

Genotyping chips

This variant has assays on 11 chips - Show

About this variant

This variant overlaps 3 transcripts, 1 regulatory feature, has 4014 sample genotypes, is associated with 2 phenotypes and is mentioned in 49 citations.

Variant displays