Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
C/G/T|Ancestral: C|Ambiguity code: B
Location

Chromosome 22:37723595 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1034038 ; HGMD-PUBLIC CM067723

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 16515

HGVS names

This variant has 12 HGVS names - Hide

Variant allele T
22:g.37723595C>T
ENST00000455236.4:c.*1375C>T
ENST00000406386.7:c.1039C>T
ENSP00000384312.3:p.Arg347Ter
ENST00000344404.10:c.*522C>T
ENST00000492485.5:n.973C>T

Variant allele G
22:g.37723595C>G
ENST00000455236.4:c.*1375C>G
ENST00000406386.7:c.1039C>G
ENSP00000384312.3:p.Arg347Gly
ENST00000344404.10:c.*522C>G
ENST00000492485.5:n.973C>G

About this variant

This variant overlaps 8 transcripts and is associated with 2 phenotypes.

Variant displays