Original source

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

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

Chromosome 6:10404509 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM102900, CM085950

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_003220.2:c.763A>G, 444

HGVS names

This variant has 42 HGVS names - Show

About this variant

This variant overlaps 36 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays