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 11:17427124 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM961360, CM107080

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 9246, NG_008867.1:g.54779G>T_1278134232

This variant has 8 HGVS names - click the plus to show

About this variant

This variant overlaps 7 transcripts and is associated with 3 phenotypes.

Variant displays