Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 9:91724990 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM002102 ; PhenCode KinMutBase_ROR2_DNA:g.226173C>T (G/A)

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 10986

HGVS names

This variant has 6 HGVS names - Hide

9:g.91724990G>A
ENST00000550066.5:n.1972C>T
ENST00000375715.5:c.1084C>T
ENSP00000364867.1:p.Gln362Ter
ENST00000375708.3:c.1504C>T
ENSP00000364860.3:p.Gln502Ter

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays