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 18:23539941 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM990944

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15109

HGVS names

This variant has 7 HGVS names - Hide

18:g.23539941C>T
ENST00000586718.1:n.456G>A
ENST00000540608.5:n.2579G>A
ENST00000269228.9:c.2665G>A
ENSP00000269228.4:p.Val889Met
ENST00000591051.1:c.1743G>A
ENSP00000467636.1:p.Val582Met

About this variant

This variant overlaps 9 transcripts and is associated with 2 phenotypes.

Variant displays