Original source

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

Alleles
A/T | Ancestral: A | Ambiguity code: W
Location

Chromosome 1:226885603 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM951087

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 11 HGVS names - click the plus to show

About this variant

This variant overlaps 9 transcripts, is associated with 3 phenotypes and is mentioned in 4 citations.

Variant displays