Original source

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

Alleles
C/A|Ancestral: C|Ambiguity code: M
Location

Chromosome 11:69818738 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM090142

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4470, NM_005247.2:c.196G>T

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