Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome 7:94426459 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930157

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 20 HGVS names - click the plus to show

Variant allele A
7:g.94426459G>A
ENST00000481570.5:n.3007G>A
ENST00000297268.10:c.3034G>A
ENSP00000297268.6:p.Gly1012Ser
ENST00000478215.1:n.593G>A
ENST00000620463.1:c.3028G>A
ENSP00000477719.1:p.Gly1010Ser
LRG_2:g.36899G>A
LRG_2t1:c.3034G>A
LRG_2p1:p.Gly1012Ser

Variant allele C
7:g.94426459G>C
ENST00000481570.5:n.3007G>C
ENST00000297268.10:c.3034G>C
ENSP00000297268.6:p.Gly1012Arg
ENST00000478215.1:n.593G>C
ENST00000620463.1:c.3028G>C
ENSP00000477719.1:p.Gly1010Arg
LRG_2:g.36899G>C
LRG_2t1:c.3034G>C
LRG_2p1:p.Gly1012Arg

About this variant

This variant overlaps 22 transcripts and is associated with 2 phenotypes.

Variant displays