Original source

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

C/G/T|Ancestral: C|Ambiguity code: B

Chromosome 3:122283896 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM010178 ; PhenCode CASRdb_c.1942C>T (C/T)

Most severe consequence
Stop gained
Evidence status

Clinical significance


LSDB 9997, 2010_April_001_047_CASR_601199_0032

HGVS names

This variant has 10 HGVS names - Show

About this variant

This variant overlaps 6 transcripts and is associated with 3 phenotypes.

Variant displays