Original source

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

Alleles
T/A/C|Ancestral: T|Ambiguity code: H
Location

Chromosome 3:122284371 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM960245 ; PhenCode CASRdb_c.2417T>C (T/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_035_CASR_601199_0011, 9977

HGVS names

This variant has 10 HGVS names - Show

About this variant

This variant overlaps 6 transcripts and is associated with 2 phenotypes.

Variant displays