Original source

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

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

Chromosome 11:112087953 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM022244

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

This variant has 21 HGVS names - click the plus to show

11:g.112087953A>G
ENST00000528182.5:c.149A>G
ENSP00000435475.1:p.His50Arg
ENST00000525987.5:n.154A>G
ENST00000526592.5:c.149A>G
ENSP00000432005.1:p.His50Arg
ENST00000532699.1:c.149A>G
ENSP00000456434.1:p.His50Arg
ENST00000614349.4:c.149A>G
ENSP00000480666.1:p.His50Arg
ENST00000375549.7:c.149A>G
ENSP00000364699.3:p.His50Arg
ENST00000528021.5:c.149A>G
ENSP00000432465.1:p.His50Arg
ENST00000525291.5:c.53-914A>G
ENST00000531744.5:c.149A>G
ENSP00000456957.1:p.His50Arg
ENST00000530923.5:c.139A>G
ENSP00000432946.1:p.His47Arg
ENST00000528048.5:c.149A>G
ENSP00000436217.1:p.His50Arg

This variant has assays on 4 chips - click the plus to show

About this variant

This variant overlaps 20 transcripts, has 2506 sample genotypes and is associated with 8 phenotypes.

Variant displays