Original source

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

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

Chromosome 11:67490153 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM0910824

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_003977.2:c.584T>C

HGVS names

This variant has 10 HGVS names - Show

About this variant

This variant overlaps 13 transcripts, 1 regulatory feature and is associated with 1 phenotype.

Variant displays