Original source

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

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

Chromosome 17:43115750 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM101974, CM041681

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB U14680.1:c.110C>G, U14680.1:c.110C>A

HGVS names

This variant has 84 HGVS names - Show

About this variant

This variant overlaps 46 transcripts and is associated with 5 phenotypes.

Variant displays