Most severe consequence
 
Missense variant
Alleles
C/T|Ancestral: C
Location

Chromosome 11:2160835 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM082896

Evidence status

Clinical significance

HGVS names

This variant has 25 HGVS names - Show

Synonyms

This variant has 2 synonyms - Show

Original source

Variants (including SNPs and indels) imported from dbSNP (release 149)|View in dbSNP

About this variant

This variant overlaps 17 transcripts, 1 regulatory feature, is associated with 3 phenotypes and is mentioned in 2 citations.

Description from SNPedia

Description not available [More information from SNPedia]

Variant displays