Original source

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

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

Chromosome 10:100989316 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM023775

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13533, 2010_April_001_069_PEO1_606075_0009

HGVS names

This variant has 16 HGVS names - Show

About this variant

This variant overlaps 54 transcripts and is associated with 2 phenotypes.

Variant displays