Original source

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

Alleles
G/C|Ancestral: G|Ambiguity code: S
Location

Chromosome 10:100989823 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM012081, HM070102

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_062_PEO1_606075_0002, 13526

HGVS names

This variant has 8 HGVS names - Show

About this variant

This variant overlaps 26 transcripts and is associated with 2 phenotypes.

Variant displays