Original source

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

Alleles
C/A/G|Ancestral: C|Ambiguity code: V
Location

Chromosome 1:183590200 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM086691, CM101795

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms
HGVS names

This variant has 26 HGVS names - Show

About this variant

This variant overlaps 12 transcripts, 1 regulatory feature, is associated with 3 phenotypes and is mentioned in 3 citations.

Variant displays