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 1:183215467 (forward strand) | View in location tab

Co-located

with COSMIC COSM234264 (C/T) ; HGMD-PUBLIC CM941035

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

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

1:g.183215467C>T
ENST00000264144.4:c.283C>T
ENSP00000264144.4:p.Arg95Ter
ENST00000493293.5:c.283C>T
ENSP00000432063.1:p.Arg95Ter

About this variant

This variant overlaps 2 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays