Original source

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

Alleles
C/G/T | Ancestral: C | Ambiguity code: B | MAF: < 0.01 (G)
Location

Chromosome 11:124870035 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM061188

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15860

This variant has 10 HGVS names - click the plus to show

Variant allele T
11:g.124870035C>T
ENST00000538940.5:c.667C>T
ENSP00000441797.1:p.Arg223Trp
ENST00000397801.5:c.733C>T
ENSP00000380903.1:p.Arg245Trp

Variant allele G
11:g.124870035C>G
ENST00000538940.5:c.667C>G
ENSP00000441797.1:p.Arg223Gly
ENST00000397801.5:c.733C>G
ENSP00000380903.1:p.Arg245Gly

About this variant

This variant overlaps 4 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays