Original source

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

Alleles
C/A/G/T | Ancestral: C | Ambiguity code: N
Location

Chromosome 17:63918072 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM051510

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2371

This variant has 30 HGVS names - click the plus to show

About this variant

This variant overlaps 21 transcripts and is associated with 2 phenotypes.

Variant displays