Original source

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

Alleles
C/G/T|Ancestral: C|Ambiguity code: B
Location

Chromosome 4:1004292 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3607276, COSM3607277 ; HGMD-PUBLIC CM940974

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 6451

HGVS names

This variant has 12 HGVS names - Hide

Variant allele T
4:g.1004292C>T
ENST00000514224.1:c.1465C>T
ENSP00000425081.1:p.Arg489Ter
ENST00000514698.5:n.1972C>T
ENST00000247933.8:c.1861C>T
ENSP00000247933.4:p.Arg621Ter

Variant allele G
4:g.1004292C>G
ENST00000514224.1:c.1465C>G
ENSP00000425081.1:p.Arg489Gly
ENST00000514698.5:n.1972C>G
ENST00000247933.8:c.1861C>G
ENSP00000247933.4:p.Arg621Gly

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 22 transcripts and is associated with 2 phenotypes.

Variant displays