Original source

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

Alleles
T/C|Ancestral: C|Ambiguity code: Y|MAF: 0.26 (T)
Location

Chromosome 11:17388025 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM981121

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 9 synonyms - Show

HGVS names

This variant has 7 HGVS names - Hide

11:g.17388025T>C
ENST00000526912.1:c.-24A>G
ENST00000528992.1:c.84A>G
ENSP00000436479.1:p.Lys29Glu
ENST00000528731.1:c.-16-179A>G
ENST00000339994.4:c.67A>G
ENSP00000345708.4:p.Lys23Glu

Genotyping chips

This variant has assays on 9 chips - Show

About this variant

This variant overlaps 11 transcripts, has 2537 sample genotypes, is associated with 8 phenotypes and is mentioned in 105 citations.

Variant displays