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 16:57651247 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM045048

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 12393

This variant has 126 HGVS names - click the plus to show

About this variant

This variant overlaps 75 transcripts and is associated with 2 phenotypes.

Variant displays