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 20:34292467 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM045450

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 5340

HGVS names

This variant has 7 HGVS names - Hide

20:g.34292467C>T
ENST00000468908.1:n.499G>A
ENST00000217426.6:c.336G>A
ENSP00000217426.2:p.Trp112Ter
ENST00000538132.1:c.252G>A
ENSP00000442820.1:p.Trp84Ter
ENST00000480653.5:n.383G>A

About this variant

This variant overlaps 6 transcripts and is associated with 2 phenotypes.

Variant displays