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 22:37725758 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM067725, CD060673

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 16519

HGVS names

This variant has 6 HGVS names - Hide

22:g.37725758C>T
ENST00000455236.4:c.*3538C>T
ENST00000406386.7:c.3202C>T
ENSP00000384312.3:p.Arg1068Ter
ENST00000344404.10:c.*2685C>T
ENST00000492485.5:n.3136C>T

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays