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 9:2643480 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM081472

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB NM_003383.3:c.769C>T, 6076

HGVS names

This variant has 5 HGVS names - Show

About this variant

This variant overlaps 5 transcripts, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays