Original source

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

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

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

Co-located

with HGMD-PUBLIC CM001816

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 12958

This variant has 3 HGVS names - click the plus to show

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