Original source

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

Alleles
C/G/T | Ancestral: C | Ambiguity code: B
Location

Chromosome 11:17387943 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM061826, CM050280

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 6 synonyms - click the plus to show

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

About this variant

This variant overlaps 20 transcripts, is associated with 3 phenotypes and is mentioned in 7 citations.

Variant displays