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 8:86632768 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM001816

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 12958

HGVS names

This variant has 3 HGVS names - Hide

8:g.86632768G>A
ENST00000320005.5:c.1304C>T
ENSP00000316605.5:p.Ser435Phe

About this variant

This variant overlaps 1 transcript and is associated with 2 phenotypes.

Variant displays