Original source

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

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

Chromosome 11:46725897 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM830036

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

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

11:g.46725897G>A
ENST00000530231.5:c.598G>A
ENSP00000433907.1:p.Glu200Lys
ENST00000490274.1:n.378G>A
ENST00000311907.9:c.598G>A
ENSP00000308541.5:p.Glu200Lys
ENST00000442468.1:c.568G>A
ENSP00000387413.1:p.Glu190Lys

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts, has 2504 sample genotypes, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays