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 4:145639572 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3428207 ; HGMD-PUBLIC CM042746

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_043_MMAA_607481_0005, 14930

HGVS names

This variant has 8 HGVS names - Hide

4:g.145639572C>T
ENST00000506919.1:n.921C>T
ENST00000281317.9:c.433C>T
ENSP00000281317.5:p.Arg145Ter
ENST00000541599.4:c.433C>T
ENSP00000442284.2:p.Arg145Ter
ENST00000511969.4:c.433C>T
ENSP00000427422.1:p.Arg145Ter

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 5 transcripts and is associated with 3 phenotypes.

Variant displays