Original source

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

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

Chromosome 1:11022292 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM091850, CM091851

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 7 synonyms - click the plus to show

This variant has 50 HGVS names - click the plus to show

About this variant

This variant overlaps 70 transcripts, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays