Original source

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

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

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

Co-located

with HGMD-PUBLIC CM081472

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

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

This variant has 5 HGVS names - click the plus to show

About this variant

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

Variant displays