Original source

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

Alleles
T/G|Ancestral: T|Ambiguity code: K
Location

Chromosome 7:100626830 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM024599

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_003227.3:c.2069A>C, 12815

HGVS names

This variant has 11 HGVS names - Hide

7:g.100626830T>G
ENST00000465294.5:n.1989A>C
ENST00000490084.5:c.*913A>C
ENST00000461176.1:n.415A>C
ENST00000431692.5:c.*744A>C
ENST00000476304.5:n.1690A>C
ENST00000462107.1:c.2069A>C
ENSP00000420525.1:p.Gln690Pro
ENST00000462090.5:n.1105A>C
ENST00000223051.7:c.2069A>C
ENSP00000223051.3:p.Gln690Pro

About this variant

This variant overlaps 11 transcripts, 1 regulatory feature, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays