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 7:94418508 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM070864

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 11 HGVS names - Hide

7:g.94418508G>A
ENST00000473573.5:n.318G>A
ENST00000297268.10:c.1981G>A
ENSP00000297268.6:p.Gly661Ser
ENST00000620463.1:c.1975G>A
ENSP00000477719.1:p.Gly659Ser
ENST00000461525.5:n.70G>A
ENST00000497316.5:n.378G>A
LRG_2:g.28948G>A
LRG_2t1:c.1981G>A
LRG_2p1:p.Gly661Ser

About this variant

This variant overlaps 9 transcripts and is associated with 2 phenotypes.

Variant displays