Original source

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

Alleles
A/G/T|Ancestral: A|Ambiguity code: D
Location

Chromosome 11:64746796 (forward strand)|View in location tab

Co-located variants

COSMIC COSM4574629 ; HGMD-PUBLIC CM001321

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15736

HGVS names

This variant has 14 HGVS names - Hide

Variant allele T
11:g.64746796A>T
ENST00000483742.1:n.1745T>A
ENST00000377432.7:c.2128T>A
ENSP00000366650.3:p.Trp710Arg
ENST00000164139.3:c.2392T>A
ENSP00000164139.3:p.Trp798Arg
LRG_100:g.3661T>A

Variant allele G
11:g.64746796A>G
ENST00000483742.1:n.1745T>C
ENST00000377432.7:c.2128T>C
ENSP00000366650.3:p.Trp710Arg
ENST00000164139.3:c.2392T>C
ENSP00000164139.3:p.Trp798Arg
LRG_100:g.3661T>C

About this variant

This variant overlaps 46 transcripts and is associated with 3 phenotypes.

Variant displays