Original source

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

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

Chromosome 13:33017018 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM074308

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 12847

HGVS names

This variant has 4 HGVS names - Hide

13:g.33017018A>G
ENST00000380099.3:c.578A>G
ENSP00000369442.3:p.His193Arg
ENST00000487852.1:n.586A>G

About this variant

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

Variant displays