Original source

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

Alleles
C/A/T|Ancestral: C|Ambiguity code: H
Location

Chromosome 9:2645603 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM080620

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB NM_003383.3:c.1342C>T, 27242

HGVS names

This variant has 10 HGVS names - Show

About this variant

This variant overlaps 10 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays