Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R|MAF: < 0.01 (G)
Location

Chromosome 6:43614018 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM003167

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 8 HGVS names - Hide

6:g.43614018A>G
ENST00000372226.1:c.*287A>G
ENST00000496137.5:c.*131+6101T>C
ENST00000372236.8:c.1603A>G
ENSP00000361310.4:p.Lys535Glu
LRG_470:g.42878A>G
LRG_470t1:c.1603A>G
LRG_470p1:p.Lys535Glu

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 4 transcripts, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays