Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

Alleles
C/T | Ambiguity code: Y
Location

Chromosome 22:38119452 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM060496

Most severe consequence
Clinical significance

Synonyms

LSDB 16517

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

22:g.38119452C>T
ENST00000455236.2:c.*1225C>T
ENST00000344404.6:c.*372C>T
ENST00000406386.3:c.889C>T
ENSP00000384312.3:p.Gln297Ter
ENST00000492485.1:n.823C>T

Variation displays