Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

with HGMD-PUBLIC CM071543

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

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

This variant has 8 HGVS names - click the plus to show

About this variant

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

Variant displays