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 9:37426545 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM002277

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 12578, NM_012203.1:c.295C>T

This variant has 10 HGVS names - click the plus to show

About this variant

This variant overlaps 11 transcripts and is associated with 2 phenotypes.

Variant displays