Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | 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

with HGMD-PUBLIC CM003167

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 8 HGVS names - click the plus to show

6:g.43614018A>G
ENST00000372226.1:c.*287A>G
ENST00000496137.2:c.*131+6101T>C
ENST00000372236.5:c.1603A>G
ENSP00000361310.4:p.Lys535Glu
LRG_470:g.42878A>G
LRG_470t1.1:c.1603A>G
LRG_470p1.1:p.Lys535Glu

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni2.5, Illumina_HumanOmni5

Variation displays