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

Co-located variant

HGMD-PUBLIC CM970761

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 6459

HGVS names

This variant has 6 HGVS names - Hide

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