Original source

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

Alleles
A/C/T|Ancestral: A|Ambiguity code: H|MAF: 0.10 (T)
Location

Chromosome 11:69078931 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM083199

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 14 HGVS names - Hide

Variant allele T
11:g.69078931A>T
ENST00000542467.1:c.1450A>T
ENSP00000445551.1:p.Met484Leu
ENST00000442692.2:n.1043A>T
ENST00000294309.7:c.1450A>T
ENSP00000294309.3:p.Met484Leu
ENST00000535009.5:n.1259A>T

Variant allele C
11:g.69078931A>C
ENST00000542467.1:c.1450A>C
ENSP00000445551.1:p.Met484Leu
ENST00000442692.2:n.1043A>C
ENST00000294309.7:c.1450A>C
ENSP00000294309.3:p.Met484Leu
ENST00000535009.5:n.1259A>C

Genotyping chips

This variant has assays on 7 chips - Show

About this variant

This variant overlaps 10 transcripts, has 2813 sample genotypes, is associated with 3 phenotypes and is mentioned in 8 citations.

Variant displays