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 22:37724297 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM067724

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 16516

HGVS names

This variant has 6 HGVS names - Hide

22:g.37724297C>T
ENST00000455236.4:c.*2077C>T
ENST00000344404.10:c.*1224C>T
ENST00000406386.7:c.1741C>T
ENSP00000384312.3:p.Gln581Ter
ENST00000492485.5:n.1675C>T

About this variant

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

Variant displays