Original source

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

Alleles
G/A/T|Ancestral: G|Ambiguity code: D
Location

Chromosome 9:91737400 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM002099

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 10989

HGVS names

This variant has 12 HGVS names - Hide

Variant allele A
9:g.91737400G>A
ENST00000550066.5:n.1081C>T
ENST00000375715.5:c.193C>T
ENSP00000364867.1:p.Arg65Ter
ENST00000375708.3:c.613C>T
ENSP00000364860.3:p.Arg205Ter

Variant allele T
9:g.91737400G>T
ENST00000550066.5:n.1081C>A
ENST00000375715.5:c.193C>A
ENST00000375715.5:c.193C>A(p.=)
ENST00000375708.3:c.613C>A
ENST00000375708.3:c.613C>A(p.=)

About this variant

This variant overlaps 6 transcripts and is associated with 2 phenotypes.

Variant displays