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 7:107917349 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM970417

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 6387

HGVS names

This variant has 10 HGVS names - Hide

7:g.107917349G>A
ENST00000417551.5:c.1123G>A
ENSP00000390667.1:p.Glu375Lys
ENST00000205402.9:c.1123G>A
ENSP00000205402.3:p.Glu375Lys
ENST00000440410.5:c.1054G>A
ENSP00000417016.1:p.Glu352Lys
ENST00000437604.6:c.979G>A
ENSP00000387542.2:p.Glu327Lys
ENST00000415325.5:c.*797G>A

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 6 transcripts and is associated with 3 phenotypes.

Variant displays