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 5:13901476 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM020270

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 11781

HGVS names

This variant has 3 HGVS names - Hide

5:g.13901476G>A
ENST00000265104.4:c.1828C>T
ENSP00000265104.4:p.Gln610Ter

About this variant

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

Variant displays