Original source

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

Alleles
T/C | Ancestral: T | Ambiguity code: Y
Location

Chromosome 3:122284595 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM001067 ; PhenCode CASRdb_c.2641T>C (T/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_046_CASR_601199_0031, 9996

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