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 22:37725905 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM060498

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 16520

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

22:g.37725905C>T
ENST00000455236.4:c.*3685C>T
ENST00000406386.7:c.3349C>T
ENSP00000384312.3:p.Arg1117Ter
ENST00000344404.10:c.*2832C>T
ENST00000492485.5:n.3283C>T

About this variant

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

Variant displays