Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R
Location

Chromosome 11:69818917 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM081614

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_005247.2:c.17T>C, 4471

HGVS names

This variant has 3 HGVS names - Show

About this variant

This variant overlaps 1 transcript and is associated with 2 phenotypes.

Variant displays