Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 16:50711316 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM012825

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 6 HGVS names - click the plus to show

About this variant

This variant overlaps 11 transcripts, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays