Original source

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

Alleles
T/G | Ancestral: T | Ambiguity code: K
Location

Chromosome 11:17387593 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM074293

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 7 HGVS names - click the plus to show

11:g.17387593T>G
ENST00000526912.1:c.238A>C
ENSP00000432729.1:p.Ile80Leu
ENST00000528731.1:c.238A>C
ENSP00000434755.1:p.Ile80Leu
ENST00000339994.4:c.499A>C
ENSP00000345708.4:p.Ile167Leu

About this variant

This variant overlaps 6 transcripts, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays