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 5:41803148 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3855313 ; HGMD-PUBLIC CM005412

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10157

HGVS names

This variant has 6 HGVS names - Hide

5:g.41803148C>T
ENST00000196371.9:c.971G>A
ENSP00000196371.5:p.Gly324Glu
ENST00000509987.1:c.413G>A
ENSP00000425348.1:p.Gly138Glu
ENST00000514723.1:n.144+37303G>A

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays