Original source

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

Alleles
T/A | Ancestral: T | Ambiguity code: W
Location

Chromosome 3:122284134 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM062491 ; PhenCode CASRdb_c.2180T>A (T/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10010, 2010_April_001_058_CASR_601199_0045

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

About this variant

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

Variant displays