Original source

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

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

Chromosome 1:183222181 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM020032

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 3779

This variant has 5 HGVS names - click the plus to show

1:g.183222181C>T
ENST00000493293.5:c.733C>T
ENSP00000432063.1:p.Arg245Ter
ENST00000264144.4:c.733C>T
ENSP00000264144.4:p.Arg245Ter

About this variant

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

Variant displays