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 17:39665865 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM025914 ; PhenCode TCAP:c.260G>A (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 12689

HGVS names

This variant has 8 HGVS names - Show

About this variant

This variant overlaps 20 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays