Original source

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

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

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

Co-located

with HGMD-PUBLIC CM081614

Most severe consequence
Evidence status

Clinical significance

Synonyms

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

This variation has 3 HGVS names - click the plus to show

About this variant

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

Variation displays