Original source

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

with HGMD-PUBLIC CM014309

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15249

This variant has 9 HGVS names - click the plus to show

About this variant

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

Variant displays