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

Co-located variant

HGMD-PUBLIC CM002277

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

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

HGVS names

This variant has 10 HGVS names - Show

About this variant

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

Variant displays