Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 11:67490059 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM104862

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB NM_003977.2:c.490C>T

HGVS names

This variant has 10 HGVS names - Show

About this variant

This variant overlaps 12 transcripts, 1 regulatory feature and is associated with 1 phenotype.

Variant displays