Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 11:44275472 (forward strand)|View in location tab

Co-located variants

COSMIC COSM188962 ; HGMD-PUBLIC CM010011

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_007_ALX4_605420_0003, NP_068745.2:p.Arg218Gln, 13161

HGVS names

This variant has 3 HGVS names - Show

About this variant

This variant overlaps 1 transcript, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays