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 11:69810559 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM070118

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4467, NM_005247.2:c.466T>C

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

About this variant

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

Variant displays