Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

with HGMD-PUBLIC CM086691, CM101795

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 26 HGVS names - click the plus to 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