Original source

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

Alleles
C/A|Ancestral: C|Ambiguity code: M
Location

Chromosome 7:30974052 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM010308

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2345

HGVS names

This variant has 13 HGVS names - Hide

7:g.30974052C>A
ENST00000409904.7:c.473C>A
ENSP00000387113.3:p.Ala158Glu
ENST00000489974.5:n.438C>A
ENST00000337750.9:c.175-377C>A
ENST00000409316.5:c.51-377C>A
ENST00000461390.1:n.133C>A
ENST00000611037.1:c.111C>A
ENST00000611037.1:c.111C>A(p.=)
ENST00000461424.5:n.241C>A
ENST00000396227.6:c.406-377C>A
ENST00000326139.6:c.665C>A
ENSP00000320180.2:p.Ala222Glu

About this variant

This variant overlaps 10 transcripts and is associated with 2 phenotypes.

Variant displays