Original source

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

with COSMIC COSM3765554 (T/C) ; HGMD-PUBLIC CM981121

Most severe consequence
Evidence status

Clinical significance

This variation has 9 synonyms - click the plus to show

This variation has 7 HGVS names - click the plus to show

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

This variation has assays on 9 chips - click the plus to show

About this variant

This variant overlaps 11 transcripts, has 2537 individual genotypes, is associated with 8 phenotypes and is mentioned in 102 citations.

Variation displays