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 9:91757380 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM052360

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 10993

HGVS names

This variant has 7 HGVS names - Hide

9:g.91757380G>A
ENST00000550066.5:n.823C>T
ENST00000495386.5:n.618C>T
ENST00000375715.5:c.-66C>T
ENST00000375708.3:c.355C>T
ENSP00000364860.3:p.Arg119Ter
ENST00000548585.2:n.172+49C>T

About this variant

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

Variant displays