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 5:41842690 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM005411

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10158

This variant has 6 HGVS names - click the plus to show

5:g.41842690C>T
ENST00000196371.9:c.656G>A
ENSP00000196371.5:p.Gly219Glu
ENST00000509987.1:c.98G>A
ENSP00000425348.1:p.Gly33Glu
ENST00000514723.1:n.68G>A

About this variant

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

Variant displays