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 7:114662075 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM012948

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13111

HGVS names

This variant has 27 HGVS names - Hide

7:g.114662075G>A
ENST00000634664.1:n.133G>A
ENST00000441290.6:c.*1658G>A
ENST00000393489.7:c.1382G>A
ENSP00000377129.3:p.Arg461His
ENST00000635534.1:c.1649G>A
ENSP00000489229.1:p.Arg550His
ENST00000634411.1:c.1607G>A
ENSP00000489135.1:p.Arg536His
ENST00000408937.7:c.1733G>A
ENSP00000386200.3:p.Arg578His
ENST00000634623.1:c.1598G>A
ENSP00000488944.1:p.Arg533His
ENST00000412402.5:c.*1376G>A
ENST00000635638.1:c.1661G>A
ENSP00000489073.1:p.Arg554His
ENST00000393498.6:c.1595G>A
ENSP00000377135.2:p.Arg532His
ENST00000393491.7:c.1103G>A
ENSP00000377130.3:p.Arg368His
ENST00000403559.8:c.1709G>A
ENSP00000385069.4:p.Arg570His
ENST00000350908.8:c.1658G>A
ENSP00000265436.7:p.Arg553His
ENST00000393494.6:c.1658G>A
ENSP00000377132.2:p.Arg553His
ENST00000635109.1:c.*1455G>A

About this variant

This variant overlaps 15 transcripts and is associated with 2 phenotypes.

Variant displays