Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 8:31147397 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM961465

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 12750

HGVS names

This variant has 7 HGVS names - Hide

8:g.31147397C>T
ENST00000521620.5:n.2126C>T
ENST00000298139.5:c.3493C>T
ENSP00000298139.5:p.Gln1165Ter
LRG_524:g.119136C>T
LRG_524t1:c.3493C>T
LRG_524p1:p.Gln1165Ter

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays