Original source

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

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

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


with COSMIC COSM188962 (C/T) ; HGMD-PUBLIC CM010011

Most severe consequence
Missense variant
Evidence status

Clinical significance


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

This variant has 3 HGVS names - click the plus to show

About this variant

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

Variant displays