Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M
Location

Chromosome 11:116837100 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM900015

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 14 HGVS names - click the plus to show

About this variant

This variant overlaps 10 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays