Original source

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

Alleles
T/G|Ancestral: T|Ambiguity code: K
Location

Chromosome 3:122284317 (forward strand)|View in location tab

Co-located variants

COSMIC COSM479299 ; HGMD-PUBLIC CM980304 ; PhenCode CASRdb_c.2363T>G (T/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_043_CASR_601199_0027, 9992

HGVS names

This variant has 5 HGVS names - Show

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays