Original source

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

Alleles
C/G | Ancestral: C | Ambiguity code: S
Location

Chromosome 1:16996008 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM071564

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 14 HGVS names - click the plus to show

About this variant

This variant overlaps 14 transcripts and is associated with 3 phenotypes.

Variant displays