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

Chromosome 11:2160878 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM074281, CM074280

Evidence status

Clinical significance

HGVS names

This variant has 50 HGVS names - Show

Synonyms

This variant has 14 synonyms - Show

Original source

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

About this variant

This variant overlaps 18 transcripts, 1 regulatory feature, is associated with 6 phenotypes and is mentioned in 9 citations.

Description from SNPedia

Description not available [More information from SNPedia]

Variant displays