Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: < 0.01 (A)
Location

Chromosome 11:69816334 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM070117

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 4468, NM_005247.2:c.310C>T

HGVS names

This variant has 3 HGVS names - Show

About this variant

This variant overlaps 1 transcript, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays