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

Co-located

with HGMD-PUBLIC CM067724

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 16516

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

22:g.37724297C>T
ENST00000455236.3:c.*2077C>T
ENST00000344404.9:c.*1224C>T
ENST00000406386.6:c.1741C>T
ENSP00000384312.3:p.Gln581Ter
ENST00000492485.4:n.1675C>T

About this variant

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

Variation displays