Original source

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

Alleles
C/G|Ancestral: C|Ambiguity code: S|MAF: < 0.01 (G)
Location

Chromosome 11:108135240 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM014309

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15249

HGVS names

This variant has 10 HGVS names - Show

About this variant

This variant overlaps 11 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays