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 7:143321841 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM930139

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 8 HGVS names - Hide

7:g.143321841G>A
ENST00000343257.6:c.689G>A
ENSP00000339867.2:p.Gly230Glu
ENST00000455478.5:c.147G>A
ENSP00000400027.1:p.Gly50Glu
ENST00000432192.5:c.147G>A
ENSP00000395949.1:p.Gly50Glu
ENST00000495612.1:n.147G>A

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature, is associated with 3 phenotypes and is mentioned in 2 citations.

Variant displays