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 11:67490804 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM071543

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB NM_003977.2:c.804C>A, 13283

HGVS names

This variant has 8 HGVS names - Show

About this variant

This variant overlaps 13 transcripts and is associated with 3 phenotypes.

Variant displays