Original source

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

Alleles
G/A/C|Ancestral: G|Ambiguity code: V
Location

Chromosome 11:124870650 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM041426

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15853

HGVS names

This variant has 10 HGVS names - Hide

Variant allele A
11:g.124870650G>A
ENST00000397801.5:c.955G>A
ENSP00000380903.1:p.Glu319Lys
ENST00000538940.5:c.889G>A
ENSP00000441797.1:p.Glu297Lys

Variant allele C
11:g.124870650G>C
ENST00000397801.5:c.955G>C
ENSP00000380903.1:p.Glu319Gln
ENST00000538940.5:c.889G>C
ENSP00000441797.1:p.Glu297Gln

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays