Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 17:42787485 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM012649

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10655, NM_032387.4:c.1684G>A

HGVS names

This variant has 6 HGVS names - Show

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays