Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
C/G | Ancestral: C | Ambiguity code: S
Location

Chromosome 22:19764224 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM071113

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10751, 2009_August_001_104_TBX1_602054_0005

This variant has 12 HGVS names - click the plus to show

22:g.19764224C>G
ENST00000332710.8:c.582C>G
ENSP00000331791.4:p.His194Gln
ENST00000359500.7:c.582C>G
ENSP00000352483.3:p.His194Gln
ENST00000329705.11:c.582C>G
ENSP00000331176.7:p.His194Gln
ENST00000621939.1:c.582C>G
ENSP00000477982.1:p.His194Gln
LRG_226:g.12522C>G
LRG_226t1:c.582C>G
LRG_226p1:p.His194Gln

About this variant

This variant overlaps 7 transcripts and is associated with 2 phenotypes.

Variant displays