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 4:1002387 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM970761

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 6459

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

4:g.1002387C>T
ENST00000514224.1:c.695C>T
ENSP00000425081.1:p.Thr232Met
ENST00000514698.5:n.1198C>T
ENST00000247933.8:c.1091C>T
ENSP00000247933.4:p.Thr364Met

About this variant

This variant overlaps 11 transcripts and is associated with 2 phenotypes.

Variant displays